Newborn Screening Tests

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Organic acid metabolism disorders:
* IVA (isovaleric acidemia)
* GA I (glutaric acidemia)
* HMG (3-OH 3-CH3 glutaric aciduria)
* MCD (multiple carboxylase deficiency)
* MUT (methylmalonic acidemia due to mutase deficiency)
* Cbl A,B (methylmalonic acidemia)
* 3MCC (3-methylcrotonyl-CoA carboxylase deficiency)
* PROP (propionic acidemia)
* BKT (beta-ketothiolase deficiency)
Fatty acid oxidation disorders
* MCAD (medium-chain acyl-CoA dehydrogenase deficiency)
* VLCAD (very long-chain acyl-CoA dehydrogenase deficiency)
* LCHAD (long-chain L-3-OH acyl-CoA dehydrogenase deficiency)
* TFP (trifunctional protein deficiency)
* CUD (carnitine uptake defect)
Amino acid metabolism disorders:
* PKU (phenylketonuria)
* MSUD (maple syrup urine disease)
* HCY (homocystinuria due to CBS deficiency)
* CIT (citrullinemia)
* ASA (argininosuccinic acidemia)
* TYR I (tyrosinemia type I)
Hemoglobinopathies:
* Hb SS (sickle cell anemia)
* Hb S/Th (hemoglobin S/beta-thalassemia)
* Hb S/C (hemoglobin S/C disease)
Others:
* CH (congenital hypothyroidism)
* BIOT (biotinidase deficiency)
* CAH (congenital adrenal hyperplasia due to 21-hydroxylase deficiency)
* GALT (classical galactosemia)
* HEAR (hearing loss)
* CF (cystic fibrosis)

1 yorum:

Indhu dedi ki...

Thanks for this useful post. Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: http://www.accessdna.com/condition/Beta_Ketothiolase_Deficiency/58. Thanks, AccessDNA