Professionals - Disorder Factsheets

DISCLAIMER:
Although we are encouraging health care providers to visit the ACT sheets developed by the American College of Medical Genetics in association with the American Academy of Pediatrics, we have been told that our newborn screening fact sheets for professionals are useful. We have since archived these fact sheets for informational purposes. However, we will not be regularly updating these fact sheets. The fact sheets were last updated in 2005.

The fact sheet content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. NEVER DISREGARD PROFESSIONAL MEDICAL ADVICE, OR DELAY IN SEEKING IT, BECAUSE OF SOMETHING YOU HAVE READ ON THIS FACT SHEET.

Amino Acid Disorders

Argininemia
ASAL (argininosuccinyl-CoA lyase deficiency)
ASAS (citrullinemia/Argininosuccinate synthetase deficiency)
CBS (homocystinemia/cystathionine beta-synthase deficiency)
MSUD (Maple syrup urine disease)
PKU (phenylketonuria)
Tyrosinemia

Fatty Acid Oxidation Disorders

Carnitine transporter deficiency
CAT (carnitine/acylcarnitine translocase deficiency)
CPT-1 (carnitine palmitoyl transferase deficiency-type 1)
CPT-2 (carnitine palmitoyl transferase deficiency-type 2)
GA-2 (glutaric acidemia-type 2)
GA-2 (late-onset glutaric acidemia-type 2)
LCHADD/TFP (long chain 3-hydroxyacyl-CoA dehydrogenase deficiency/Trifunctional protein deficiency)
MCADD (medium chain acyl-CoA dehydrogenase deficiency)
SCADD (short chain acyl-CoA dehydrogenase deficiency)
SCHADD (short chain 3-hydroxyacyl-CoA dehydrogenase deficiency)
VLCADD (very long chain acyl-CoA dehydrogenase deficiency)

Organic Acid Disorders

BKD (beta-ketothiolase deficiency)
GA-1 (glutaric acidemia type-1)
GA-2 (glutaric acidemia type-2)
GA-2 (late-onset glutaric acidemia-type 2)
HMGCoA (3-hydroxy-3-methylglutaryl-CoA lyase deficiency)
Isobutyryl-CoA dehydrogenase deficiency
IVA (isovaleric acidemia)
MMA, Vit B12 responsive (methylmalonic acidemia, Vitamin B12 responsive)
MMA, Vit B12 non-responsive (methylmalonic acidemia, Vitamin B12 nonresponsive)
Vitamin B12 metabolic defect with methylmalonic acidemia and homocystinuria
PA (propionic acidemia)
3MCC (3-methylcrotonyl-CoA carboxylase deficiency)
2MBC (2-methylbutyryl-CoA dehydrogenase deficiency)