Princess Margaret Hospital
WA Newborn Screening Program - Information For Parents
- Some other amino acid disorders
- Some Fatty Acid Oxidation Disorders
These include: Medium-chain Acyl-CoA
Dehydrogenase (MCAD) Deficiency,
Carnitine-acylcarnitine Translocase Deficiency, Carnitine Palmitoyltransferase
Deficiencies, Carnitine Transporter Defect, Very Long-chain Acyl-CoA Dehydrogenase
Deficiency (VLCAD), Long-chain 3-hydroxy Acyl-CoA Dehydrogenase Deficiency, Trifunctional
Protein Deficiency and Glutaric Aciduria Type II.
- Some Organic Acid Disorders
These include: Methylmalonic Aciduria
(MMA), Propionic Acidaemia, Isovaleric Acidaemia, Glutaric
Aciduria Type I, Beta-ketothiolase Deficiency, Hydroxymethylglutaric Aciduria,
Multiple Carboxylase Deficiency, and 3-methylcrotonyl-CoA Carboxylase Deficiency.