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Disease List:

3 6 A B C D E F G H I J K L M N O P R S T U V W Z

Alstrom Syndrome

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What is Alstrom Syndrome?

Alstrom Syndrome is an autosomal recessive disorder that affects many parts of the body. Signs and symptoms vary from person to person and usually begin in infancy or childhood. Children with Alstrom Syndrome typically have vision and hearing loss that worsens with time. A type of heart disease called dilated cardiomyopathy develops in some. Diabetes, obesity, breathing problems, liver disease, kidney disease, and short stature are common. Intelligence is not affected. Adults may have progressive liver and kidney disease that can lead to failure of these organs. Depending on the severity of symptoms, lifespan may be shortened. Currently there is no cure for Alstrom Syndrome although treatment is available for some of the medical problems that occur with this disorder.

What causes Alstrom Syndrome?

Alstrom Syndrome is caused by a gene change, or mutation, in both copies of the ALMS1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. 

Andermann Syndrome

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What is Andermann Syndrome?

Andermann Syndrome, also known as Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum, is an autosomal recessive disorder that affects the brain and nervous system. Symptoms usually begin shortly after birth and include poor muscle tone and weakness with loss of feeling in the arms and legs. Underdevelopment of the corpus callosum (the part of the brain that connects the left and right sides) is common and reflexes are either absent or abnormal. Intellectual disability ranges from mild to severe and some children have seizures. Delays in learning to walk are common and teenagers often lose the ability to walk and may need the use of a wheelchair. Teens may have episodes of depression, anxiety, or hallucinations. People with Andermann Syndrome often live into adulthood but lifespan is usually decreased. Currently there is no cure or specific treatment for this condition.

What causes Andermann Syndrome?

Andermann Syndrome is caused by a gene change, or mutation, in both copies of the SLC12A6 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above.

Argininosuccinate Lyase Deficiency

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What is Argininosuccinate Lyase Deficiency?

Argininosuccinate Lyase Deficiency is an autosomal recessive disorder in which the body is unable to remove ammonia.  Too much ammonia in the body and blood causes damage to the body’s organs. 

Symptoms of Argininosuccinate Lyase Deficiency most often begin in the first few days after birth. Some children with this condition may have a milder form in which symptoms begin in late infancy or early childhood.  Newborns with symptoms may have vomiting, lethargy, irritability, or poor appetite.  If untreated, symptoms may worsen to include seizures, difficulty staying warm, muscle weakness, breathing problems, swelling of the brain, coma, or death within the first few weeks of life.  For those with late infancy or childhood onset disease, symptoms may include intellectual disability, behavior problems, hyperactivity, enlarged liver or liver disease, poor growth, dry and brittle hair, small head size, avoidance of meat or other high protein foods, and/or episodes of high ammonia in the blood.  Without treatment, life threatening problems such as difficulty breathing, swelling of the brain, and seizures may develop.

What causes Argininosuccinate Lyase Deficiency?

Argininosuccinate Lyase Deficiency is caused by changes, or mutations, in both copies of the ASL gene pair.  These mutations cause the genes to not work properly or not work at all.  Normal function of the ASL gene is necessary to help remove ammonia from the body.  When both copies of the ASL gene are not working correctly, ammonia builds up in the body and leads to the symptoms described above. 

Aromatase Deficiency

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What is Aromatase Deficiency?

Aromatase Deficiency is an autosomal recessive disorder that leads to decreased female sex hormones and increased male sex hormones in the body.  Aromatase is an enzyme which converts the male sex hormone androgen into the female sex hormone estrogen, which is important for female development before birth and during puberty.  Estrogen is also important for bone growth and maintaining normal blood sugar levels in the body.

Females with Aromatase Deficiency may have external genitals that are not clearly female or male, along with normal internal female organs.  Without treatment, breast growth and menstrual cycles typically do not occur.  Females may also experience acne and excessive body hair growth.  In most cases, males with Aromatase Deficiency are born with normal external male genitals.  However, some males will have decreased sex drive, abnormal sperm production, or small undescended testes. Both females and males with Aromatase Deficiency may have abnormal bone growth resulting in tall stature, thinning of the bones with increased fractures (bone breaks), and delayed bone age.  People with Aromatase Deficiency may have abnormally high blood sugar levels, excess weight gain, and a fatty liver.  Estrogen replacement therapy can help to reverse some symptoms of this condition.

Pregnant women carrying a child with Aromatase Deficiency may temporarily have symptoms of this condition starting as early as 12 weeks gestation. This is caused by excess male sex hormones in the placenta.  These symptoms may include a deepened voice, acne, an enlarged clitoris, or excess hair growth and typically go away following delivery of the affected child. 

What causes Aromatase Deficiency?

Aromatase Deficiency is caused by a gene change, or mutation, in both copies of the CYP19A1 gene pair.  These mutations cause the genes to not work properly or not work at all.  If both copies of the CYP19A1 gene do not work correctly, it leads to the symptoms described above. 

Asparagine Synthase Deficiency

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What is Asparagine Synthase Deficiency?

Asparagine Synthase Deficiency is an autosomal recessive disorder that affects the brain.  Signs and symptoms usually begin in infancy and include small head size, severe developmental delay, abnormal brain development, poor muscle tone, and seizures.  Affected children often have feeding problems and breathing problems.  Death may occur in infancy or childhood.  Currently there is no cure for this condition and treatment is based on symptoms.

What causes Asparagine Synthase Deficiency?

Asparagine Synthetase Deficiency is caused by a change, or mutation, in both copies of the ASNS gene pair.  These mutations cause the genes to not work properly or not work at all.  When both copies of this gene do not work correctly, it leads to the symptoms described above.

Aspartylglycosaminuria

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What is Aspartylglycosaminuria?

Aspartylglycosaminuria is an autosomal recessive disorder in which the body is unable to breakdown certain types of proteins, called glycoasparagines, in the cells, leading to a toxic buildup in the body.  People with Aspartylglycosaminuria typically have normal development in infancy but develop symptoms within the first few years of life.  These symptoms can include speech delays, coarse facial features, recurrent respiratory infections, eye abnormalities, spine deformity, behavior problems, and intellectual disability.  Symptoms worsen with age, including the loss of most learned speech by adulthood and declining intellectual abilities.  Adults with Aspartylglycosaminuria may develop seizures, fragile bones, loose joints and skin, or movement problems.  Lifespan is reduced with this condition with most people with Aspartylglycosaminuria living to their thirties or forties.  Currently there is no cure for this condition and treatment is based on symptoms.

What causes Aspartylglycosaminuria?

Aspartylglycosaminuria is caused by a gene change, or mutation, in both copies of the AGA gene pair.  These mutations cause the genes to not work properly or not work at all.  When both copies of this gene are not working correctly, the body lacks an important enzyme which helps to break down specific proteins in the body.  As a result, these proteins buildup and cause damage to the body’s cells, especially the nerve cells in the brain, and cause the symptoms described above. 

Ataxia with Vitamin E Deficiency

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What is Ataxia with Vitamin E Deficiency?

Ataxia with Vitamin E Deficiency is an autosomal recessive disorder that affects the body’s ability to use vitamin E.  When the body is unable to use vitamin E from the diet, damage can occur to the body’s cells, especially in the central nervous system (brain and spine).  Lack of vitamin E can cause problems with speech and movement, loss of reflexes in the legs, and loss of sensation in the arms and legs.  Signs and symptoms of Ataxia with Vitamin E Deficiency usually appear between the ages of 4 and 18 years.  In rare cases, symptoms may begin before or after this typical age range. Most people with this condition will develop coordination problems that worsen with age.  Some people with Ataxia with Vitamin E Deficiency develop vision loss (caused by the eye disorder known as retinitis pigmentosa), disease of the heart muscle (cardiomyopathy), or curvature of the spine.  The number and severity of symptoms in Ataxia with Vitamin E Deficiency varies from person to person. 

What causes Ataxia with Vitamin E Deficiency?

Ataxia with Vitamin E Deficiency is caused by a gene change, or mutation, in both copies of the TTPA gene pair.  These mutations cause the gene to not work properly or not work at all.  When both copies of the TTPA gene are not functioning correctly, the body lacks a protein necessary for sending vitamin E obtained from the diet to cells and tissues throughout the body.  Tissues that use vitamin E have a buildup of free radicals in their cells, leading to damage, especially to nerve cells in the brain and spinal cord. 

Ataxia-Telangiectasia

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What is Ataxia-Telangiectasia?

Ataxia-Telangiectasia is an autosomal recessive disorder that affects many parts of the body.  Signs and symptoms usually begin in the first year of life and include problems with movement and coordination (ataxia), slurred speech, and abnormal eye movements.  The ataxia worsens over time and affected children usually require a wheelchair by the teen years.  Groups of enlarged blood vessels called telangiectases develop on the skin and eyes.  People with Ataxia-Telangiectasia have a weakened immune system, may  have frequent sinus and lung infections, are at  increased risk to develop cancer, especially leukemia and lymphoma, and are sensitive to the effects of radiation including X-rays.   Lifespan is often shortened in this disorder.  Currently there is no cure and treatment is based on symptoms.

Carriers for Ataxia-Telangiectasia may be sensitive to the effects of radiation.  Female carriers for Ataxia-Telangiectasia may have an increased risk for developing breast cancer.  

What causes Ataxia-Telangiectasia?

Ataxia-Telangiectasia is caused by a change, or mutation, in both copies of the ATM gene pair.  These mutations cause the genes to not work properly or not work at all.  When both copies of the ATM gene do not work correctly it leads to the health problems described above. 

Autism Spectrum, Epilepsy and Arthrogryposis

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What is Autism Spectrum, Epilepsy and Arthrogryposis?

Autism Spectrum, Epilepsy and Arthrogryposis is an inherited disorder that causes intellectual disability, autism, seizures, and abnormalities of the joints of the limbs. Arthrogryposis is the lack of normal range of motion in one or more joints.  Affected children have involvement of most joints, especially those of the neck, fingers and toes.  Currently there is no cure for this condition and treatment is based on symptoms.

What causes Autism Spectrum, Epilepsy and Arthrogryposis?

Autism Spectrum, Epilepsy and Arthrogryposis is caused by a gene change, or mutation, in both copies of the SLC35A3 gene.  These mutations cause the genes to not work properly or not work at all. When both copies of the SLC35A3 gene do not work correctly, it leads to the symptoms described above.  

Autoimmune Polyglandular Syndrome, Type 1

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What is Autoimmune Polyglandular Syndrome, Type 1?

Autoimmune Polyglandular Syndrome, Type 1 is an autosomal recessive disorder of the immune system in which the body attacks and damages its own tissues and organs.  Signs and symptoms typically begin during childhood or adolescence.  The three main areas of the body affected by this disorder include the skin, the parathyroid glands, and the adrenal glands.  Mucocutaneous candidiasis, a fungal infection, affects the skin and inside of the mouth and nose.  Hypoparathyroidism, caused by lack of hormones made by the parathyroid gland, leads to tingling of the lips, fingers, and toes; pain, cramping, and weakness of the muscles; and lack of energy.  Addison disease, caused by lack of hormones from the adrenal glands, causes muscle weakness, loss of appetite, weight loss, low blood pressure, and bronzing of the skin.  Some people with this condition have only two of the three of the main problems listed above.  Some people also have other signs and symptoms that may include diabetes, thyroid problems, and digestive problems. Currently there is no cure for this condition. Treatment is available to reduce symptoms and may include hormone replacement therapy and other medications and supplements as indicated.

What causes Autoimmune Polyglandular Syndrome, Type 1?

Autoimmune Polyglandular Syndrome, Type 1 is caused by a gene change, or mutation, in both copies of the AIRE gene pair.  These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. 

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

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What is Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay?

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay is an autosomal recessive disorder that affects the muscles and nervous system.  Signs and symptoms usually begin in infancy or early childhood and worsen with age.  Children first have coordination and balance problems with unsteady walking (ataxia), spasticity (muscle tightness), and muscle weakness and wasting (atrophy). Speech problems and abnormal eye movements (nystagmus) also occur. Other symptoms may include vision problems due to a buildup of tissue on the retina, misshapen fingers, toes, and feet, loss of sensation in the legs, and in some cases mitral valve prolapse (leaky valve in the heart).  Intelligence is not affected.  Most people with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay need the use of a wheelchair in adulthood.  Currently there is no cure for this disorder but there are treatments that can help lessen or delay some of the symptoms.

What causes Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay?

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay is caused by a gene change, or mutation, in the both copies of the SACS gene pair.  These mutations cause the genes to not work properly or not work at all.  When both copies of this gene do not work correctly, it leads to the symptoms described above. 

Bardet-Biedl Syndrome, BBS1-Related

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What is Bardet-Biedl Syndrome, BBS1-Related?

Bardet-Biedl Syndrome, BBS1-Related is one of a group of autosomal recessive disorders that affect many parts of the body.  Common signs and symptoms include progressive vision loss, obesity, extra fingers and/or toes (polydactyly), intellectual disability, kidney abnormalities, and male genital abnormalities.  Eyesight problems begin early in life and worsen with time.  People with this condition are usually legally blind by adolescence or early adulthood.  Males with this condition usually have reduced amounts of sex hormones and as a result have underdeveloped genitals and infertility (inability to have biologic children).  Increased weight gain often begins in early childhood and continues with age causing obesity and related health problems.  Other signs and symptoms include distinctive facial features, abnormal tooth development, behavior problems, kidney disease, and less commonly, heart, liver, and bowel disease.  Intellectual disability can range from mild to severe.  Currently there is no cure or specific treatment for this condition.

What causes Bardet-Biedl Syndrome, BBS1-Related?

Bardet-Biedl Syndrome, BBS1-Related is caused by a gene change, or mutation, in both copies of the BBS1 gene pair.  These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. 

Bardet-Biedl Syndrome, BBS10-Related

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What is Bardet-Biedl Syndrome, BBS10-Related?

Bardet-Biedl Syndrome, BBS10-Related is one of a group of autosomal recessive disorders that affect many parts of the body.  Common signs and symptoms include progressive vision loss, obesity, extra fingers and/or toes (polydactyly), intellectual disability, kidney abnormalities, and male genital abnormalities.  Eyesight problems begin early in life and worsen with time.  People with this condition are usually legally blind by adolescence or early adulthood.  Males with this condition usually have reduced amounts of sex hormones and as a result have underdeveloped genitals and infertility (inability to have biologic children).  Increased weight gain often begins in early childhood and continues with age causing obesity and related health problems.  Other signs and symptoms include distinctive facial features, abnormal tooth development, behavior problems, kidney disease, and, less commonly, heart, liver, and bowel disease.  Intellectual disability can range from mild to severe.  Currently there is no cure or specific treatment for this condition.

What causes Bardet-Biedl Syndrome, BBS10-Related?

Bardet-Biedl Syndrome, BBS10-Related is caused by a gene change, or mutation, in both copies of the BBS10 gene pair.  These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. 

Bardet-Biedl Syndrome, BBS12-Related

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What is Bardet-Biedl Syndrome, BBS12-Related?

Bardet-Biedl Syndrome, BBS12-Related is one of a group of autosomal recessive disorders that affect many parts of the body.  Common signs and symptoms include progressive vision loss, obesity, extra fingers and/or toes (polydactyly), intellectual disability, kidney abnormalities, and male genital abnormalities.  Eyesight problems begin early in life and worsen with time.  People with this condition are usually legally blind by adolescence or early adulthood.  Males with this condition usually have reduced amounts of sex hormones and as a result have underdeveloped genitals and infertility (inability to have biologic children).  Increased weight gain often begins in early childhood and continues with age causing obesity and related health problems.  Other signs and symptoms include distinctive facial features, abnormal tooth development, behavior problems, kidney disease, and, less commonly, heart, liver, and bowel disease.  Intellectual disability can range from mild to severe.  Currently there is no cure or specific treatment for this condition.

What causes Bardet-Biedl Syndrome, BBS12-Related?

Bardet-Biedl Syndrome, BBS12-Related is caused by a gene change, or mutation, in both copies of the BBS12 gene pair.  These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. 

Bardet-Biedl Syndrome, BBS2-Related

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What is Bardet-Biedl Syndrome, BBS2-Related?

Bardet-Biedl Syndrome, BBS2-Related is one of a group of autosomal recessive disorders that affect many parts of the body.  Common signs and symptoms include progressive vision loss, obesity, extra fingers and/or toes (polydactyly), intellectual disability, kidney abnormalities, and male genital abnormalities.  Vision problems begin early in life and worsen with time.  People with this condition are usually legally blind by adolescence or early adulthood.  Males with this condition usually have reduced amounts of sex hormones and, as a result, have underdeveloped genitals and infertility (inability to have biological children).  Increased weight gain often begins in early childhood and continues with age, causing obesity and related health problems.  Other signs and symptoms include distinctive facial features, abnormal tooth development, behavior problems, kidney disease, and, less commonly, heart, liver, and bowel disease.  Intellectual disability can range from mild to severe.  Currently there is no cure or specific treatment for this condition.

Very rarely, mutations in the same gene cause a different autosomal recessive disorder called Retinitis Pigmentosa 74.  This condition causes vision loss that begins with loss of night vision and worsens over time, usually leading to blindness by adulthood.  Only a few families worldwide have been reported with Retinitis Pigmentosa 74.

What causes Bardet-Biedl Syndrome, BBS2-Related?

Bardet-Biedl Syndrome, BBS2-Related is caused by a gene change, or mutation, in both copies of the BBS2 gene pair.  These mutations cause the genes to not work properly or not work at all.  When both copies of this gene do not work correctly, it leads to the symptoms described above. 

Bare Lymphocyte Syndrome, CIITA-Related

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What is Bare Lymphocyte Syndrome, CIITA-Related?

Bare Lymphocyte syndrome, CIITA-Related (also called Bare Lymphocyte Syndrome, Type II) is an autosomal recessive disorder of the immune system. It is one of a group of inherited disorders called Severe Combined Immunodeficiency (SCID). These disorders affect the body’s ability to fight off viral, bacterial and fungal infections. The signs and symptoms of Bare Lymphocyte syndrome, CIITA-Related usually begin in the first few months after birth. Infants and children with this disorder have frequent life-threatening infections that occur in many parts of the body - especially the respiratory tract, gastrointestinal tract, skin, kidneys, urinary tract, and the brain. Children with this condition may have delayed growth and development because of problems with absorbing nutrients from food in the intestines. Death often occurs between 6 months to 5 years of age. Treatment with bone marrow or stem cell transplantation is possible for some children.

What causes Bare Lymphocyte Syndrome, CIITA-Related?

Bare Lymphocyte syndrome, CIITA-Related is caused by a change, or mutation, in both copies of the CIITA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the CIITA gene do not work correctly, it leads to the symptoms described above.

Bartter Syndrome, BSND-Related

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What is Bartter Syndrome, BSND-Related?

Bartter syndrome, BSND-Related (also known as Bartter Syndrome Type IV or Bartter Syndrome Type 4a) is an autosomal recessive disorder that causes kidney disease and hearing loss. Signs and symptoms usually begin prenatally and may include increased amniotic fluid, swelling of the fetus (hydrops), and premature birth. After birth, infants and children have slow growth and poor weight gain, hearing loss, and decreased muscle tone. They may also have abnormal facial features, developmental delay, and intellectual disability. Dehydration, an increased amount of urine, muscle weakness, fatigue, and weakened bones may also occur. Early diagnosis and treatment may improve the growth and development of infants and children with this condition.

 

What causes Bartter Syndrome, BSND-Related?

Bartter Syndrome, BSND-Related is caused by a gene change, or mutation, in both copies of the BSND gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the BSND gene are not working correctly, it leads to the symptoms described above.

Batten Disease, CLN3-Related

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What is Batten Disease, CLN3-Related?

Batten Disease, CLN3-Related, also known as Juvenile Batten Disease,  is an autosomal recessive disorder that affects the brain and nervous system leading to progressive vision loss, intellectual disability, loss of intellectual and motor skills, speech problems, and seizures.  Children typically have normal development for several years and then symptoms involving vision, thinking, and movement begin and continue to worsen with age.  People with Batten Disease, CLN3-Related may live into their twenties or thirties.  Rarely, symptoms begin in infancy and are more severe.  Babies with early-onset of symptoms usually do not live past childhood. Currently there is no cure for this condition and treatment is based on symptoms.

What causes Batten Disease, CLN3-Related?

Batten Disease, CLN3-Related is caused by a gene change, or mutation in both copies of the CLN3 gene pair.  These mutations cause the genes to not work properly or not work at all.  The CLN3 gene is important for the brain and nervous system to function normally.  When both copies of the CLN3 gene do not work correctly, cells in the nervous system eventually die, leading to the symptoms described above. 

Beta-Hemoglobinopathies

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What are Beta-Hemoglobinopathies?

Beta-Hemoglobinopathies are a group of autosomal recessive conditions that cause mild to severe anemia.  Mild anemia can cause shortness of breath, tiredness, irritability, dizziness, lightheadedness, a rapid heartbeat, and, in children, delayed growth and development. Severe anemia can be life-threatening and may require routine blood transfusions. Some forms of Beta-Hemoglobinopathy are very mild and may not cause symptoms or require treatment.  Other forms, such as Sickle Cell Disease and Beta-Thalassemia, cause more severe symptoms that often require medical treatment throughout life.  These symptoms can include severe anemia, delayed growth and development, and a number of other health problems.  Early identification and treatment of children with severe forms of Beta-Hemoglobinopathy can often help lessen the severity of symptoms.

What causes Beta-Hemoglobinopathies?

Beta-Hemoglobinopathies are caused by a change, or mutation, in both copies of the HBB gene.  These mutations cause the genes to not work properly or not work at all. When both copies of the HBB gene do not work correctly, it can lead to a Beta-Hemoglobinopathy, with symptoms ranging from very mild to severe.

Carriers for a Beta-Hemoglobinopathy, who have a mutation in only one copy of the HBB gene, may have mild anemia that typically does not need treatment.  Rarely, carriers may have moderate anemia that may or may not need treatment.

Beta-Ketothiolase Deficiency

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What is Beta-Ketothiolase Deficiency?

Beta-Ketothiolase Deficiency, also known as Ketothiolase Deficiency, is an autosomal recessive disorder in which the body cannot use a certain building block of a protein called isoleucine and also has problems breaking down fats from the diet.  Signs and symptoms of Beta-Ketothiolase Deficiency usually begin in the first or second year of life and include sleeping longer or more often, tiredness, vomiting, diarrhea, fever, poor appetite, and breathing trouble.  Signs and symptoms may appear after going a long time without food, after intake of food high in protein, or during illness.  With early diagnosis and treatment, children with Beta-Ketothiolase Deficiency can lead healthy lives. 

What causes Beta-Ketothiolase Deficiency?

Beta-Ketothiolase Deficiency is caused by a gene change, or mutation, in both copies of the ACAT1 gene pair.  These mutations cause the genes to not work properly or not work at all. The normal function of the ACAT1 genes is to help breakdown fats and protein from the diet.  When both copies of this gene do not work correctly, it leads to the symptoms described above. 

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