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Newborn Screening for Metabolic and Sickle Cell Disorders Program
Metabolic Disorders Overview and Fact Sheets - Additional Conditions
- Biotinidase Deficiency
- This disorder is caused by the lack of an enzyme called biotinidase. This disorder can lead to seizures, developmental delay, eczema, and hearing loss. Problems can be prevented with biotin treatment.
- Congenital Adrenal Hyperplasia
- This disorder is caused by the lack of an enzyme that the adrenal gland uses to process hormones. In girls, the genitalia may appear as male. Serious loss of body salt and water, even death, may occur in either sex. Treatments are available to correct the condition.
- Congenital Hypothyroidism
- This disorder is caused by the lack of thyroid hormone, which can lead to poor growth and mental retardation. If found early and treated with thyroid medication, a child will grow and develop normally.
- Cystic Fibrosis
- This disorder produces mucus that is abnormally thick and sticky. This mucus can cause lung damage and digestive problems. The main goal of treatment is to keep the lungs clear of thick mucus and to provide the correct amount of calories and nutrients to maintain health.
- Fatty Acid Oxidation Disorders (FAODs)
- Fatty Acid Oxidation Disorders (FAODs) are a group of rare inherited conditions. FAODs are caused by missing or non-working enzymes. Normally, many enzymes are used by the body to break down fat into energy. In people with FAODs, one of these enzymes is not working and fat cannot be used for energy. If these conditions are not treated, they can lead to serious health problems.
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- Galactosemia
- This disorder occurs when a baby cannot break down the galactose part of milk sugar. In some cases, life threatening damage to the brain and liver can occur as early as one week after birth. When started early, a special milk-free diet prevents these problems.
- Homocystinuria
- This disorder is caused by not being able to break down the amino acid, methionine. This disorder can lead to mental retardation, eye problems, and blood clots. When detected early, infants are put on a low methionine diet to avoid these problems.
- Maple Syrup Urine Disease (MSUD)
- This disorder is caused by not being able to break down several amino acids. It can result in mental retardation, seizures, or death. The name of the disorder comes from the distinctive maple syrup odor of the urine. When detected early, infants are put on a special diet to avoid the severe effects of the disease.
- Medium-chain acyl Co-A dehydrogenase deficiency (MCADD)
- This disorder can cause metabolic crisis when an infant "fasts" (goes for a long period of time without eating, such as during an illness). This kind of metabolic crisis can sometimes lead to seizures, failure to breathe, cardiac arrest and death. The main focus of treatment is to prevent a metabolic crisis from happening. Treatment is effective and focuses on preventing long fasts.
- Organic acid disorders (OAs)
- Organic acid disorders (OAs) are a group of rare inherited conditions. OA disorders are caused by one or more enzymes that do not work properly. People with these conditions cannot digest certain parts of protein from the food they eat. This causes harmful substances to build up in their blood and urine. This can cause serious effects on health, growth, and learning.
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- Phenylketonuria (PKU)
- This disorder is caused when a baby's body is not able to break down the amino acid phenylalanine, which is found in the protein of foods. If detected early and the baby is started on a special low phenylalanine diet, mental retardation is prevented.
- Tyrosinemia
- This disorder is caused when a baby's body is not able to break down the amino acid tyrosine. This disorder can lead to severe liver disease or cause problems with the eyes, skin, or general development. When detected early, infants are put on a special low protein diet to avoid these problems.
- Urea Cycle Disorders (UCD)
- Urea Cycle Disorders (UCD) are inherited conditions that cause ammonia to build up in the body. Ammonia is a harmful waste product made during the breakdown of protein and its amino acid building blocks. If not treated, excess ammonia in the blood can cause brain damage or death.
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