Inborn Disorders
3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC) About 1 in every 50,000 babies born in the U.S.
Description: An organic acid disorder. Babies born with this disorder cannot remove certain waste products from their blood.
Inheritance & frequency: A recessive genetic trait that is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier of the gene defect.
Potential outcome: Hypotonia (decreased muscle tone), muscle atrophy (deterioration), seizures, and dermatological changes.
Treatment: Dietary restrictions are the primary treatment; supplementation with carnitine and/or biotin may be valuable.
For more information: The Organic Acidemia Association
Argininosuccinic Acid lyase deficiency (ASAL) Approximately 1 of every 70,000 live births in the U.S.
Description: A urea cycle disorder. Babies born with this disorder have a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. Built up ammonia is toxic and can cause serious problems.
Inheritance & frequency: A recessive genetic trait that is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier of the gene defect.
Potential outcome: Hyperammonemia accompanied by lack of appetite, vomiting, listlessness, seizures, and coma. Onset is usually at birth, but symptoms might not be noticeable for days or weeks. When left untreated brain damage, coma, and death can occur.
Treatment: Restrictive diet, medication and in some affected individuals, dialysis may be necessary.
For more information: National Urea Cycle Disorders Foundation
Biotinidase deficiency (BIOT) Occurs in about 1 in 60,000 babies.
Description: There is a deficiency in the enzyme Biotinidase which is an enzyme that recycles biotin, one of the B vitamins, in the body.
Inheritance & Frequency: The gene defect for biotinidase deficiency is a recessive genetic trait that is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.
Potential outcome: Frequent infections, hearing loss, mental retardation and even death.
Treatment: If the deficiency is detected in time, problems can be prevented by giving the baby extra biotin.
For more information: Go to Save Babies Through Screening Foundation
Citrullinemia (CIT) 1 in every 57,000 babies born in the US
Description: A urea cycle disorder. Babies born with this disorder have a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. Built up ammonia is toxic and can cause serious problems
Inheritance & Frequency: It is suspected that the gene defect for Citrullinemia is a recessive genetic trait that is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.
Potential outcome: Hyperammonemia accompanied by lack of appetite, vomiting, listlessness, seizures, and coma. Onset is usually at birth, but symptoms may not be noticeable for days or weeks. When left untreated, brain damage, coma, and death will occur.
Treatment: Restricted diet and medications to prevent ammonia accumulation in the blood.
For more information: National Urea Cycle Disorders Foundation
Congenital adrenal hyperplasia (CAH) Occurs in about 1 in 15,000 babies
Description: This group of disorders causes a deficiency of certain hormones.
Inheritance & Frequency: A recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier of the gene defect.
Potential outcome: Affects genital development and, in severe cases can disturb kidney function and cause death.
Treatment: Medication.
For more information: The Magic Foundation
Congenital Hypothroidism (CHT) Affects approximately 1 in 3,000 to 4,000 births in the U.S.
Description: A thyroid hormone disorder deficiency that retards growth and brain development.
Inheritance & Frequency: Although this disorder is detectable at birth, it is not an inherited disorder. Hypothyroidism does not follow any type of pattern as to whom it will affect and randomly affects infants from almost every origin.
Potential outcome: Clinical signs of hypothyroidism often do not appear until the infant is 3-4 months of age, thus it is most likely that affected infants will have already suffered irreversible brain damage before signs of the disease begin to appear. An affected infant may have prolonged neonatal jaundice, growth failure, lethargy, poor appetite and constipation. Affected infants who are treated within the first few weeks of life will have normal or near-normal intelligence. Delayed treatment can cause mental retardation, growth failure, deafness, and neurological problems.
Treatment: Treatment includes oral doses of thyroid hormone to permit normal development.
For more information: The Magic Foundation
Cystic Fibrosis (CF) Approximately 1 in 3,200 Caucasian live births ,1 in 15,000 African American live births, 1 in 8000 latino babies and less than 1 in 3000 asian babies.
Description: A defective gene that causes the body to produce abnormally thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections. These thick secretions also obstruct the pancreas, preventing digestive enzymes from reaching the intestines to help break down and absorb food.
Potential outcomes: CF clogs the air passages, promotes bacterial growth, and leads to chronic obstruction, inflammation, and infection of the airways. Cystic fibrosis can cause lung disease, failure to grow, clubbed fingers and toes, muscular weakness, and visual impairment.
Inheritance & frequency: An individual must inherit two defective genes, one from each parent, to have cystic fibrosis. According to the Cystic Fibrosis Foundation, more than 10 million Americans are symptomless carriers of the defective cystic fibrosis gene.
Treatment: Treatment for CF depends upon the stage of the disease and the organs involved. Clearing mucus from the lungs is an important part of the daily CF treatment regimen. The median age of survival for a person with CF is 33.4 years.
For more information: Cystic Fibrosis Foundation
Galactosemia (GALT) Affects approximately 1 in every 30,000-60,000 births in the U.S.
Description: A hereditary disease that is caused by the lack of a liver enzyme required to digest galactose. The body then becomes unable to convert galactose (a sugar present in milk) into glucose (sugar the body uses for energy). Since galactose cannot be broken down, it builds up in the cells and becomes toxic.
Inheritance & Frequency: The gene defect for Galactosemia is a recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier of the gene defect.
Potential outcome: Liver disease, cataracts, mental retardation, and even death. The American Liver Foundation recommends that all infants who develop jaundice be considered for galactosemia.
Treatment: Eliminate milk and all other dairy products. Dietary restrictions are life long.
For more information: Parents of Galactosemic Children
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Unknown or inconclusive statistics
Description: G-6-PD deficiency causes the reduction of the enzyme G-6-PD in red blood cells, causing destruction of the cells, called hemolysis.
Inheritance & Frequency: An inheritable, X-linked recessive disorder.
Potential outcome: Ultimately, this hemolysis leads to anemia -- either acute hemolytic or a chronic spherocytic type.
Treatment: Restricting exposure to pathogens that cause a reaction.
At risk ethnic population: In the United States, more African Americans than Caucasians have the disorder. Approximately 10-14% of the African American male population is affected. The disorder may occasionally affect African American women to a mild degree (depending on their genetic inheritance).
For more information: Medline Plus http://www.nlm.nih.gov/medlineplus/ency/article/000528.htm
Glutaric Acidemia Type I (GA-I) – About 1 in every 40,000 caucasian babies born in the U.S.
Description: An organic acid disorder. Babies born with this disorder cannot remove certain waste products from their blood.
Inheritance & Frequency: A recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier of the gene defect.
Potential outcome: This enzyme deficiency disorder is characterized by hypoglycemia, dystonia (neurologic movement disorder), and dyskinesia (abnormal involuntary movement). After a period of apparently normal development, the disorder may appear suddenly and present as vomiting, metabolic acidosis, hypotonia (decreased muscle tone), and central nervous system degeneration. It is not yet known how or why Glutaric Acid causes brain damage, yet damage occurs when a crisis causes an acidic environment in the blood created by excess protein byproducts. Crisis can be provoked by common childhood illnesses such as colds, flu, ear infections, stomach virus, fever, etc.
Treatment: May include intravenous fluids and bicarbonate to treat acidosis. In addition, dialysis may be necessary in some affected individuals. It is reported that dietary restrictions have had inconsistent outcomes. Carnitine supplementation may be needed.
For more information: Organic Acidemia Association
Hearing deficiency – Approximately 3-4 in 1,000 newborns have significant hearing impairment. Without testing, most babies with hearing loss are not diagnosed until 2 or 3 years of age. By the time, they often have delayed speech and language development. Detection of hearing loss in the neonatal period allows the baby to be fitted with hearing aids before 6 months. Recent studies show that this early intervention helps prevent serious speech and language problems. Testing is mandatory in 38 states and Washington D.C.
For more information: Self Help for Hard of Hearing People
Homocystinuria (HCY) Approximately 1 of every 200,000-300,00 live births in the U.S
Description: A hereditary error of metabolism. It is usually caused by a defective enzyme (cystathionine synthetase) needed to properly digest a component of food called methionine (an amino acid).
Inheritance & Frequency: Homocystinuria is thought to be inherited as a recessive genetic trait, which means the gene defect is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier of the gene defect.
Potential outcome: Mental retardation, seizures, psychiatric disturbances, delays in reaching developmental milestones (e.g., crawling, walking, sitting), displacement of the lens of the eye (ectopia lentis), abnormal thinning and weakness of the bones (osteoporosis and scoliosis ), and/or the formation of blood clots (thrombi) in various veins and arteries that may lead to life-threatening complications.
Treatment: Changing the baby to a formula that does not contain methionine. Treatment may also include a methionine-restricted and cystine-supplemented diet, as well as large doses of Vitamin B6.
For more information: National Coalition of PKU & Allied Disorders
Isovaleric Acidemia (IVA) 1 in every 230,000 live births in the U.S.
Description: An organic acid disorder. Babies born with this disorder cannot remove certain waste products from their blood.
Inheritance & Frequency: A recessive genetic trait that is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier of the gene defect. IVA has been identified in various ethnic and racial groups and both males and females are affected equally.
Potential outcome: Symptoms of acute IVA are attacks of vomiting, lack of appetite, and listlessness; lethargy, neuromuscular irritability, and hypothermia are other characteristics. Permanent neurologic damage can occur if an acute episode is not prevented or misdiagnosed.
Treatment: Involves a protein-restrictive diet and carnitine supplementation. Oral administration of glycine is lifesaving and may permit normal growth and development.
For more information: Organic Acidemia Association
Long-chain l-3-OH acyl-CoA dehydrogenase deficiency (LCHAD) Unknown or inconclusive statistics
Description: A fatty oxidation disorder which is a condition that does not allow the body to convert fat to energy because an enzyme is either missing or not functioning correctly. People with LCHAD can not fast for long.
Inheritance & Frequency: The gene defect for LCHAD is a recessive genetic trait that is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier of the gene defect.
Potential Outcome: Hypoglycemia, lethargy, failure to thrive, and developmental delay, often accompanied by hypotonia (decreased muscle tone) and cardiomyopathy.
Treatment: Fasting should be avoided and a high-carbohydrate diet followed.
For more information: FODSupport
Maple Syrup Urine Disease (MSUD) less than 1 in every 100,000 babies.
Description: Extremely rare inherited metabolic disorder characterized by a distinctive sweet odor of the urine and sweat. Symptoms develop because the body is unable to break down (metabolize) three of the essential amino acids, leucine, isoleucine, and valine.
Potential outcomes: Can be life threatening.
Inheritance & Frequency: The gene defect for MSUD is a recessive genetic trait that is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier of the gene defect.
Treatment: Must be on a special diet.
For more information: MSUD Family Support Group
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Approximately 1 in every 10,000 live births
Description: A fatty oxidation disorder which is a condition that does not allow the body to convert fat to energy because an enzyme is either missing or not functioning correctly. People with MCADD cannot fast for very long.
Inheritance & Frequency: The gene defect for MCADD is a recessive genetic trait that is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers of the defective gene have children together and pass the gene to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with MCADD, a 50% chance the child will be a carrier of the defective gene, and a 25% chance that the child will not be a carrier nor have the disease.
Potential Outcome: If not detected and treated appropriately, MCADD can result in death and mental retardation.
Treatment: Usually consists of avoidance of fasting (by frequent meals) and use of glucose IV required when food cannot be tolerated (such as with a virus, cold, flu, etc.). Supplemental carnitine is recommended for some affected children.
High Risk Ethnicity: MCADD occurs mostly among Caucasians of northern European background.
For more information: FODSupport
Methylmalonic acidemia (MMA) Approximately 1 in 80,000 live births in the US.
Description: An organic acid disorder. Babies born with this disorder cannot remove certain waste products from their blood.
Inheritance & frequency: A recessive genetic trait disorder that must be inherited from both parents. Both boys and girls are equally affected.
Potential outcome: Symptoms of MMA usually begin in the first few months of life, and include lethargy, failure to thrive, vomiting, dehydration, respiratory distress, hypotonia (decreased muscle tone), and hepatomegaly (enlargement of the liver). Acute episodes may include drowsiness, coma, and seizures, with subsequent developmental delays. Unfortunately, affected patients may not survive their first attack.
Treatment: Restricted diet.
For more information: Organic Acidemia Association
Medium chain acyl-CoA dehydrogenase deficiency (MCAD) Affects approximately 1 in 15,000 babies.
Description: A fatty oxidation disorder which is a condition that does not allow the body to convert fat to energy because an enzyme is either missing or not functioning correctly. Babies with MCAD cannot fast for very long.
Inheritance & frequency: The gene defect for Multiple CoA Carboxylase Deficiency is a recessive genetic trait that is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier of the gene defect.
Potential outcome: Seizures, hypotonia (decreased muscle tone), immune system impairment, skin rashes, hair loss, hearing loss and mental retardation.
Treatment: When diagnosed early, the disorder can be successfully treated with a steady food intake and avoidance of fasting.
For more information: FODSupport
Phenylketonuria (PKU) Over 1 out of every 25,000
Description: A hereditary disease that is caused by the lack of a liver enzyme required to digest phenylalanine. Phenylalanine is an amino acid that is most commonly found in protein containing foods such as meat, cow's milk, over-the-counter infant formulas (both regular and soy) and breast milk.
Inheritance & frequency: The gene defect for phenylketonuria is a recessive genetic trait that is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance that the child will be a carrier of the gene defect.
Potential outcome: Within the first few weeks of life signs of neurologic disturbances, such as epilepsy may begin to show. PKU affected children who are not diagnosed and do not eliminate phenylalanine from their diet, will suffer from irreversible brain damage and mental retardation. Properly treated individuals should live a normal, healthy life.
Treatment: Treatment includes a special formula at infancy and a special diet throughout life.
For more information: National Coalition of PKU & allied disorders
Propionic academia (PA) Approximately 1 in 100,000 live births in the US.
Description: An organic acid disorder. Babies born with this disorder cannot remove certain waste products from their blood.
Inheritance & frequency: The gene defect for PA is a recessive genetic trait that is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier of the gene defect.
Potential outcome: Protein intolerance, vomiting, failure to thrive, lethargy, and profound metabolic acidosis. If not treated early, brain damage, including coma and generalized seizures, and death can occur.
Treatment: Includes dietary protein restriction and often calls for supplementation by medical foods. Fluids and electrolyte therapy may be needed by some individuals. In addition, acidosis can be resolved by sodium bicarbonate or dialysis. In some individuals, secondary carnitine deficiency is likely to occur, requiring supplementation.
For more information: Organic Acidemia Association
Sickle Cell Disease (SCD) Effects 1 of every 1,300 infants in the general population and approximately 1 of every 400 of African descent
Description: A rare inherited blood disorder. It is caused by the malfunction of the red blood cells in affected individuals causing a very severe form of anemia.
Inheritance & frequency: The gene defect for sickle cell disease is a recessive genetic trait that is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier of the gene defect.
Potential outcome: Untreated newborns often develop septicemia, an infection of the blood, and die within a few weeks of birth.
Treatment: Even though there is no cure for sickle cell disease, it is treated by taking folic acid and penicillin throughout the life of an affected individual.
For more information: Sickle Cell Disease Association of America
Trifunctional Protein Deficiency (TFP) Unknown or inconclusive statistics
Description: TFP is a fatty-acid oxidation disorder that tends to mimic Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD).
Inheritance & frequency: A recessive genetic trait that is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier of the gene defect
Potential Outcome: Hypoglycemia, lethargy, hypotonia (decreases muscle tone), myopathy, failure to thrive, cardiomyopathy and neuropathy. Severe, untreated cases may present as SIDS.
Treatment: Very similar to LCHAD.
For more information: FODSupport
Tyrosinemia Type I, II & III Approximately 1 of every 100,000 live births
Description: A hereditary genetic inborn error of the metabolism that causes severe liver disease in infancy.
Inheritance & frequency: The gene defect for Tyrosinemia is a recessive genetic trait that is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance that the child will be a carrier of the gene defect.
Potential outcome: Affected persons commonly develop cirrhosis of the liver and will eventually require liver transplantation to survive. Even with therapy, death frequently occurs within six to nine months of life for those who suffer from the severe form. Children with the less severe form also suffer from enlargement of the liver and spleen, poor weight gain, vomiting and diarrhea.
Treatment: A diet low in phenylalanine, methionine and tyosine is followed to keep affected children as healthy as possible for liver transplantation, which is the only proven treatment thus far for the disease.
For more information: National Coalition of PKU & Allied Disorders
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) Unknown or inconclusive statistics
Description: A fatty oxidation disorder which is a condition that does not allow the body to convert fat to energy because an enzyme is either missing or not functioning correctly. People with VLCAH can not fast for a long time.
Inheritance & frequency: The gene defect for VLCAD is a recessive genetic trait that is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier of the gene defect.
Potential Outcome: May include hypoketotic hypoglycemia, hepatocellular disease, and cardiomyopathy; fatal infantile encephalopathy may be the only indication of the condition.
Treatment: Usually consists of avoidance of fasting (by frequent meals) and use of glucose IV required when food cannot be tolerated (such as with a virus, cold, flu, etc.). Intake of long-chain fatty acids should be avoided. Supplemental carnitine is recommended for some affected children.
For more information: FODSupport
Compiled using information from the following source:
March of Dimes, www.marchofdimes.com
