Disorders Screened

Fatty Acid Oxidation Disorders
  Abbreviations
2,4 Dienoyl-CoA reductase deficiency DE RED
Carnitine palmitoyltransferase I deficiency CPT IA
Carnitine palmitoyltransferase II deficiency CPT II
Carnitine acylcarnitine translocase deficiency CACT
Carnitine uptake defect/Carnitine transport defect CUD
Glutaric acidemia type II GA II
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency LCHAD
Long-chain acyl-CoA dehydrogenase deficiency LCAD
Medium/Short-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency M/SCHAD
Medium-chain acyl-CoA dehydrogenase deficiency MCAD
Medium chain ketoacyl-CoA thiolase deficiency MCAT
Short-chain acyl-CoA dehydrogenase deficiency SCAD
Trifunctional protein deficiency TFP
Very long-chain acyl-CoA dehydrogenase deficiency VLCAD

 

Organic Acidemia Disorders
2-Methyl-3-hydroxybutyric aciduria 2M3HBA
2-Methylbutyrylglycinuria 2MBG
3-Hydroxy-3-methylglutaric aciduria HMG
3-Methylcrotonyl-CoA carboxylase deficiency 3MCC
3-Methylglutaconic aciduria 3MGA
beta-Ketothiolase deficiency BKT
Glutaric acidemia type I GA I
Isobutyrylglycinuria IBG
Isovaleric academia IVA
Malonic academia MAL
Methylmalonic acidemia - Cobalamin A, B Disorders CBL A,B
Methylmalonic academia with homocystinuria - Cobalamin C, D Disorders CBL C,D
Methylmalonic acidemia – Methylmalonyl-CoA Mutase MUT
Holocarboxylase synthase deficiency MCD
Propionic academia PROP

 

Amino Acid & Urea Cycle Disorders
Argininemia ARG
Argininosuccinic aciduria ASA
Benign hyperphenylalaninemia H-PHE
Biopterin defect of cofactor biosynthesis BIOPT (BS)
Biopterin defect of cofactor regeneration BIOPT (REG)
Citrullinemia, type I CIT I
Citrullinemia, type II CIT II
Homocystinuria HCY
Hypermethioninemia MET
Maple syrup urine disease MSUD
Classic phenylketonuria PKU
Tyrosinemia, type I TYR I
Tyrosinemia, type II TYR ll
Tyrosinemia, type III TR lll

 

Endocrine Disorders
Congenital adrenal hyperplasia CAH
Primary congenital hypothyroidism CH

 

Metabolic Disorders
Biotinidase deficiency BIOT
Classic galactosemia GALT
Galactoepimerase deficiency GALE
Galactokinase deficiency GALK

 

Hemoglobin Disorders

S, Beta-thalassemia - Hb s/B + Th

S, C disease - Hb S/C

S, S disease (Sickle cell anemia) - Hb SS 

S, Beta O - thalassemia - Hb S/BOTh

Various other Hemoglobinopathies - Var Hb

Other Disorders

Cystic fibrosis - CF

Severe Combined Immunodeficiencies - SCID

T-cell related lymphocyte deficiencies 

Last Reviewed: 7/13/2017