Disorders detectable through Supplemental Newborn Screening
Amino Acid Disorders:- Guanidinoacetate Methyltransferase deficiency (GAMT)
- Homocystinuria: Cystathionine beta synthetase deficiency (HCY or HCYS)
- Hypermethioninemia: Methionine adenosyl transferase deficiency (MAT or MET)
- Maple Syrup Urine Disease (MSUD)
- Nonketotic Hyperglycinemia (NKH)
- Phenylketonuria (PKU) or Hyperphenylalaninemia
- Tyrosinemia type I (TYR-I), Tyrosinemia II (TYR-II), Tyrosinemia III (TYR-III)
Urea Cycle Disorders:
- Argininemia: Arginase deficiency (ARG)
- Argininosuccinic aciduria: Argininosuccinate lyase deficiency (ASA)
- Citrullinemia type I: Argininosuccinate synthetase deficiency (CIT I)
- Citrullinemia type II: Citrin deficiency (CIT II)
- Hyperammonemia, hyperornithinemia, homocitrullinuria: Ornithine Transporter Defect (HHH or ORNT2)
Fatty Acid Oxidation Defects:
- Carnitine palmitoyltransferase I deficiency (CPT-I or CPT-IA)
- Carnitine palmitoyltransferase II deficiency (CPT-II)
- Carnitine/acylcarnitine translocase deficiency (CACT)
- Carnitine transport defect: Carnitine uptake disorder (CTD or CUD)
- Glutaric aciduria II: Multiple acyl-CoA dehydrogenase deficiency (GA-II or MADD)
- Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Mitochondrial trifunctional protein deficiency (TFP or MTP)
- Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
- Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
Organic Acidemias:
- Beta ketothiolase, Short-chain ketoacyl thiolase or Mitochondrial methylacetoacetyl-CoA thiolase deficiency (BKT or T2)
- Ethylmalonic encephalopathy (EMA ENC)
- Glutaric aciduria, type I (GAI)
- 3-Hydroxy-3-methylglutaric aciduria: 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)
- Holocarboxylase synthetase deficiency: Multiple carboxylase deficiency (HCS or MCD)
- Isobutyryl-CoA dehydrogenase deficiency: Isobutyrylglycinuria (IBCD or IBG)
- Isovaleric acidemia: Isovaleryl-CoA dehydrogenase deficiency (IVA)
- Malonic aciduria: Malonyl-CoA decarboxylase deficiency (MAL)
- 2-Methylbutyryl-CoA dehydrogenase deficiency: 2-methylbutyrylglycinuria (2-MBCD or 2MBG)
- 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)
- 3-Methylglutaconic aciduria type I: 3-methylglutaconyl-CoA-hydratase deficiency (3-MGA type I)
- Methylmalonic Acidemia: Methylmalonyl-CoA mutase deficiency (MUT or MMA)
- 5-Oxoprolinuria: Glutathione synthetase deficiency (5OXOPRO) or 5-Oxoprolinase deficiency
- Propionic acidemia: Propionyl-CoA carboxylase deficiency (PA or PROP)
- Some Cobalamin or Vitamin B12 Disorders (please contact us for more information)
Revised: April 2008
Implemented: May 2008
Some of the disorders listed vary by type and time of onset of symptoms and though the disorder may be detected by this methodology, types and time of onset may not be distinguishable.
Although this list of metabolic diseases is an accurate list of the diseases that are detectable through the screening process being performed, under no circumstances can it be guaranteed that the screening process will for each patient tested detect the existence or non-existence of each of the listed diseases.
Like many screening processes, the screening process being conducted is a tool to be utilized by health care providers to assist them in attempting to detect the existence of a number of diseases whose detection is dependent upon a number of factors, some of which are outside the parameters of the screening services being performed.