Information About Parents' Fact Sheets

You are welcome to view these fact sheets--however, please remember that the fact sheets were written for informational purposes only. The fact sheets should not be a substitute for professional medical advice, diagnosis or treatment.

Each fact sheet was extensively reviewed by the STAR-G Project's Steering and Education committees, by metabolic specialists from across the U.S. , and by family support groups. More detail about the creation and review of the fact sheets can be found in the flow charts below:

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Amino Acid Disorders

Argininemia/arginase deficiency
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)
LCHADD (long chain 3-hydroxyacyl-CoA dehydrogenase deficiency)
MCADD (medium chain acyl-CoA dehydrogenase deficiency)
SCADD (short chain acyl-CoA dehydrogenase deficiency)
SCHADD (short chain 3-hydroxyacyl-CoA dehydrogenase deficiency)
TFP (trifunctional protein 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)
HCSD (holocarboxylase synthetase deficiency)
HMGCoA (3-hydroxy-3-methylglutaryl-CoA lyase deficiency)
Isobutyryl-CoA dehydrogenase deficiency
IVA (isovaleric acidemia)
MMA (methylmalonic acidemia)
MMA+HCU (Methylmalonic Acidemia with Homocystinuria)
PA (propionic acidemia)
3MCC (3-methylcrotonyl-CoA carboxylase deficiency)
2MBC (2-methylbutyryl-CoA dehydrogenase deficiency)

Other Disorders

CAH (Congenital Adrenal Hyperplasia)
CH (Congenital Hypothyroidism)
CF (Cystic Fibrosis)

Drafts