| Disease Descriptions |
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Secondary Targets as recommended by the American College of Medical Genetics (ACMG) with alternate names listed
2-Methyl 3-hydroxy butyric aciduria (2M3HBA)
2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG)
- 2@Methylbutyryl glycinuria
- Short/branched-chain Acyl-CoA dehydrogenase deficiency (SBCADD)
3-Methylglutaconic aciduria (3MGA)
- Costeff syndrome
- Iraqi-Jewish ‘optic atrophy plus’
- MGA3
- MGA, Type III
- Optic atrophy 3
- Optic atrophy, infantile, with chorea and spastic paraplegia
- Optic atrophy plus syndrome
Argininemia (ARG)
- Arginase deficiency
- ARG1 deficiency
- Hyperargininemia
Biopterin cofactor biosynthesis, defects of (BIOPT BS)
Biopterin cofactor regeneration (BIOPT REG)
Carnitine: acylcarnitine translocase deficiency (CACT)
- CACT deficiency
- Carnitine-acylcarnitine carrier deficiency
Carnitine palmitoyltransferase I deficiency (liver) (CPT IA)
- CPT1
- CPT1 deficiency
- CPT1, Liver
- CPT deficiency, hepatic, type I
- Carnitine-acylcarnitine carrier deficiency
Carnitine palmitoyltransferase II deficiency (CPT II)
- Muscle form of carnitine palmitoyltransferase deficiency
Citrullinemia type II (CIT II)
Dienoyl-CoA reductase deficiency (DE RED)
Galactokinase deficiency (GALK)
- ATP:D-galactose 1-phosphotransferase
- Galactosemia II
- GK1
Galactose epimerase deficiency (GALE)
- Galactosemia III
- UDP-Galactose-4-epimerase deficiency
Glutaric acidemia Type II (GA 2)
Hypermethioninemia (MET)
- MAT Deficiency
- MAT I/III Deficiency
Hyperphenylalaninemia, benign (H-PHE)
Isobutyryl-CoA dehydrogenase deficiency (IBG)
Malonic acidemia (MAL)
- Malonic Aciduria
- Malonyl-CoA decarboxylase deficiency
- MCD deficiency
Medium/short-chain L-3-OH acyl-CoA dehydrogenase deficiency (M/SCHADD)
Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT)
Methylmalonic acidemia (Cbl C,D) (Cbl C,D)
Short-chain acyl-CoA dehydrogenase deficiency (SCADD)
- ACADS deficiency
- Lipid-storage myopathy secondary to short-chain acyl-CoA dehydrogenase deficiency
- SCAD deficiency
- SCADH deficiency
Tyrosinemia type II (TYR II)
- Keratosis palmoplantaris with corneal dystrophy
- Oregon type tyrosinemia
- Richner-Hanhart syndrome
- Tyrosine aminotransterase (TAT) deficiency
- Tyrosinosis, oculocutaneous type
Broadly, for Tyrosinemia types I, II, and III:
- Hereditary Tyrosinemias
- Hypertyrosinemia
Tyrosinemia type III (TYR III)
- 4@Hydroxyphenylpyruvate dioxygenase deficiency
- 4@Hydroxyphenylpyruvic acid oxidase deficiency
Broadly, for Tyrosinemia types I, II, and III:
- Hereditary Tyrosinemias
- Hypertyrosinemia
Variant Hb-pathies (including HB E) (Var Hb)
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