Rare metabolic conditions that are recommended in Australian newborn screening programmes:

 

These conditions are detected by measuring levels of specific metabolites in the blood:

 

Amino acidopathies

Argininosuccinic acidemia (ASA lyase deficiency)
Citrullinaemia (argininosuccinate synthase deficiency, citrin deficiency)
Tyrosinemia (fumaryl acetoacetase deficiency, tyrosine aminotransferase deficiency)
Homocystinuria (cystathionine beta-synthase deficiency)
Maple syrup urine disease (MSUD, classical and intermediate)
Phenylketonuria (including pterin deficiencies)

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Fatty acid oxidation disorders

MCAD (medium chain acyl-CoA dehydrogenase deficiency)
LCHAD (3-hydroxy long chain acyl-CoA dehydrogenase deficiency)
VLCAD (very long chain acyl-CoA dehydrogenase deficiency)
Carnitine transporter defect
CPT-I deficiency (carnitine-palmitoyl-CoA acyltransferase I deficiency)
CPT-II deficiency (carnitine-palmitoyl-CoA acyltransferase II deficiency)
CACT deficiency (carnitine-acylcarnitine translocase deficiency)
TFP (trifunctional protein deficiency)
MADD glutaric acidemia type II (multiple acyl-CoA dehydrogenase deficiency)

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Organic acid disorders

Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency)
Glutaric acidaemia type I (glutaryl-CoA dehydrogenase deficiency)
Multiple carboxylase deficiency (holocarboxylase synthetase deficiency)
3-hydroxy-3-methylglutaryl-CoA lyase (HMGCoA lyase) deficiency
Isovaleric acidaemia
Methylmalonic acidurias (mutase deficiency, CblA, CblB, CblC, CblD defects)
Propionic acidaemia
3-methylcrotonyl-CoA carboxylase deficiency

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