Thursday, February 13, 2003

Testing babies


Each state's newborn screenings

Newborn screening requirements vary state to state, though there is some discussion about establishing national standards. In the Tristate, these screenings are required:

Kentucky

Phenylketonuria (PKU): A genetic inability to process the amino acid phenylalanine into various proteins. Untreated, it leads to mental retardation.

Hypothyroidism: A deficiency of thyroid hormones that can lead to mental retardation.

Galactosemia: The inability to metabolize galactose, also known as brain sugar, which results in mental retardation and eye and liver damage.

Sickle cell disease: A usually fatal form of anemia characterized by sickle-shaped red blood cells, characterized by fever, leg ulcers, jaundice and joint pain.

Ohio

The above, plus:

Homocystinuria: An inherited inability to metabolize homocystine, resulting in mental retardation, sparse blond hair and abnormalities of the eye, skeleton and cardiovascular system.

Medium chain acyl-CoA dehydrogenase deficiency (MCADD): The inability to metabolize certain fatty acids that can result in hypoglycemia, coma and death. Some individuals may develop learning or development disabilities.

Maple syrup urine disease: A hereditary enzyme deficiency that causes certain amino acids to build up in the blood and urine, resulting in severe mental retardation, seizures and sometimes, death.

Isovaleric acidemia: The inability to metabolize certain amino acids, which can result in the failure of the metabolic system and death, sometimes 24 hours after birth.

Propionic acidemia: The inability to metabolize certain amino acids, which can result in the failure of the metabolic system and death, sometimes shortly after birth, or, longer-term, damage to the heart, brain and kidneys.

Methylmalonic acidemia: The inability to metabolize certain amino acids, which can result in the failure of the metabolic system and death, sometimes shortly after birth, or, longer-term, damage to the heart, brain and kidneys.

Citrullinemia: A urea cycle disorder that causes certain amino acids to build up in the blood and urine, sometimes resulting in coma, and leading to mental retardation, central nervous system deterioration, damage to the liver and kidneys and death.

Argininosuccinic acidemia: The inability to metabolize certain amino acids, which can result in the failure of the metabolic system and death, sometimes shortly after birth, or, longer-term, damage to the heart, brain and kidneys.

Indiana

The above, plus:

Biotinidase deficiency: The inability to metabolize biotin from foods, which may result in skin problems, hearing and vision damage, developmental delay and lack of muscle tone and coordination.

Congenital adrenal hyperplasia: The inability to synthesize certain hormones, which can result in abnormal growth, and, in females, genital abnormalities and infertility.

Tyrosinemia I and II: The inability to metabolize the amino acid tyrosine, resulting in progressive liver and kidney damage. Transplantation may be necessary.

3-Methylcrotonyl-CoA carboxylase deficiency: The inability to metabolize certain amino acids, which may result in loss of muscle tone and function.

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: The inability to break down leucine, resulting in hypoglycemia and, in some cases, brain injury.

Multiple CoA carboxylase deficiency: A genetic biotin deficiency which, untreated, can lead to seizures, developmental delay, eczema and hearing loss.

3-Kethiolase deficiency: The inability to break down certain acids, which causes them to build up in the blood and urine, and may result in severe metabolic failures.

2,4-Dienoyl-CoA reductase deficiency: The inability to convert certain fatty acids into energy, resulting in hypoglycemia, damage to the heart, liver and kidneys, metabolic failure and, in some cases, death.

Short chain acyl-CoA dehydrogenase deficiency (SCAD): The inability to metabolize certain fatty acids, which might result in metabolic difficulties. There is little agreement as to the effects of the disorder, or whether it actually qualifies as a disorder, as opposed to a risk factor.

Very long chain acyl-CoA dehydrogenase deficiency (VLCAD): Similar to MCAD, the inability to metabolize certain fatty acids can result in hypoglycemia and damage to the heart, liver and kidneys.

3-Hydroxy long chain acyl-CoA dehydrogenase deficiency: The inability to metabolize certain fatty acids that can result in hypoglycemia and damage to the heart, liver and kidneys.

Glutaric acidemia - type II: The inability to utilize energy from the metabolism of fatty acids, resulting in severe hypoglycemia, coma, vomiting, renal failure, and if present early in life, death.



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