| Disease Descriptions |
 |
Core Panel as recommended by the American College of Medical Genetics (ACMG) with alternate names listed
3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)
- 3-methylcrotonylglycinuria
- BMCC deficiency
- Deficiency of methylcrotonoyl-CoA carboxylase
- MCC deficiency
- MCC1 deficiency
- Methylcrotonyl-CoA carboxylase deficiency
- Methylcrotonylglycinuria Type 1
3-OH 3-CH3 glutaric aciduria (HMG)
- 3-@hydroxy-3-methylglutaryl-CoAlyase
- Deficiency of hydroxymethylglutaryl-CoA lyase
- HL deficiency
- HMG-CoA lyase deficiency
- Hydroxymethylglutaric aciduria
- Leucine metabolism, defect in
Argininosuccinic acidemia (ASA)
- Argininosuccinic acidemia
- Argininosuccinic acid lyase deficiency
- Argininosuccinase deficiency
- Argininocuccinate lyase deficiency
- ASL deficiency
Beta-Ketothiolase deficiency (BKT)
- 2-alpha-methyl-3-hydroxybutyricacidemia
- 3-alpha-ketothiolase deficiency
- 3-alpha-ktd deficiency
- 3-alpha-oxothiolase deficiency
- 3-Ketothiolase deficiency
- 3-Methylhydroxybutyric acidemia
- alpha-Methylacetoacetic Aciduria
- MAT deficiency
- Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated
- Mitochondrial acetoacetyl-CoA thiolase deficiency
- T2 deficiency
Biotinidase deficiency (BIOT)
- BTD Deficiency
- Carboxylase Deficiency, Multiple, Late-Onset
- Multiple Carboxylase Deficiency, Juvenile-Onset
- Multiple Carboxylase Deficiency, Late-Onset
Carnitine uptake defect (CUD)
- Carnitine deficiency, primary
- Carnitine transporter deficiency
- Carnitine uptake deficiency
- Renal carnitine transport defect
- Systemic carnitine deficiency
Citrullinemia (CIT)
- Argininosuccinate acid synthetase deficiency
- Argininosuccinate synthetase deficiency
- ASS deficiency
- CTLN1
- Citrullinemia, Classic
- Citrullinemia, TYPE I
- Citrullinuria
Classical galactosemia (GALT)
- Classic Galactosemia
- Galactokinase Deficiency Disease
- Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
- GALT Deficiency
- UDP-Galactose-4-Epimerase Deficiency Disease
- UDPglucose 4-Epimerase Deficiency Disease
- UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency
- UTP Hexose-1-Phosphate Uridylyltransferase Deficiency
Congenital adrenal hyperplasia (21-hydroxylase deficiency) (CAH)
- 21-@hydroxylase deficiency
- Adrenogenital Syndrome
- Adrenal hyperplasia III
- CYP21 deficiency
- Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
Congenital hypothyroidism (CH)
- CHT - Congenital hypothyroidism
- Cretinism
- Myxedema, Congenital
Cystic fibrosis (CF)
- Cystic fibrosis of pancreas
- Fibrocystic Disease of Pancreas
- Mucoviscidosis
Glutaric acidemia type I (GA I)
- Glutaric acidemia I
- Glutaric aciduria I
- Glutaryl-CoA dehydrogenase deficiency
HB S/C disease (Hb S/C)
Hb S/ß-thalassemia (Hb S/ßTh)
Homocystinuria (due to CBS deficiency) (HCY)
- Cystathionine Beta-Synthase deficiency
- CBS deficiency
Isovaleric acidemia (IVA)
- Isovaleric acid-CoA dehydrogenase deficiency
- Isovaleryl-CoA dehydrogenase deficiency
- IVD deficiency
Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHADD)
- 3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency
- long-chain hydroxyacyl-CoA dehydrogenase deficiency
- Trifunctional protein deficiency, type 1
Maple syrup urine disease (MSUD)
- BCKD deficiency
- Branched-chain alpha-keto dehydrogenase deficiency
- Branched-Chain Ketoaciduria
- Ketoacidemia
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- ACADM deficiency
- MCAD deficiency
- MCADH deficiency
- Methylmalonic Aciduria
- MMA
- Methylmalonic Acidemia due to nethylmalonyl-CoA mutase deficiency
- MMA due to MCM deficiency
- Methylmalonic Aciduria, mut type
Multiple carboxylase deficiency (MCD)
- Early-onset biotin-responsive multiple carboxylase deficiency
- Early-onset combined carboxylase deficiency
- Holocarboxylase synthetase deficience (HLCS deficiency)
- Infantile multiple carboxylase deficiency
- Multiple carboxylase deficiency, Neonatal form
Phenylketonuria (PKU)
- Classical Phenylketonuria
- Folling disease
- Oligophrenia phenylpyruvica
- PAH deficiency
- Phenylalanine hydroxylase deficiency
- Phenylketonuria I
Propionic acidemia (PROP)
- Hyperglycinemia with ketoacidosis and leucopenia
- Ketotic glycinemia
- Ketotic hyperglycinemia
- PCC deficiency
- Propionyl-CoA carboxylase deficiency
Sickle cell anemia (Hb SS disease) Hb (SS)
- Hb S disease
- Hemoglobin S disease
- Herrick’s anemia
- SCD
- Sickle cell disorders
Trifunctional protein deficiency (TFP)
- Mitochondrial trifunctional protein deficiency
- MTP deficiency
- TPA deficiency
- Trifunctional protein deficiency, type 2
Tyrosinemia type I (TYR I)
- Hepatorenal tyrosinemia
- FAH deficiency
- Fumarylacetoacetase deficiency
Broadly, for Tyrosinemia types I, II, and III:
- Hereditary Tyrosinemias
- Hypertyrosinemia
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD)
- ACADVL
- Acyl-CoA dehydrogenase, very long chain deficiency
- LCAD
- Long-chain acyl CoA dehydrogenase deficiency
- Long-chain acyl coenzyme A dehydrogenase deficiency
- Very long-chain acyl coenzyme A dehydrogenase deficiency
- VLCAD-C
- VLCAD-H
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