|
DEFECTS IN METABOLISM OF LIPIDS:
DISORDERS OF MITOCHONDRIAL FATTY ACID OXIDATION:
Defects in the ß-Oxidation Cycle
- Medium-chain acyl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Defects in Electron Transfer Pathway
- Multiple acyl-CoA dehydrogenase deficiency- severe and mild
- Riboflavin responsive multiple acyl-CoA dehydrogenase deficiency
Defects in the Carnitine Cycle
- Carnitine palmitoyl transferase deficiency types 1 & 11
- Carnitine acyl-carnitine translocase deficiency
- Carnitine transporter deficiency (primary carnitine deficiency)
DEFECTS IN METABOLISM OF BRANCHED CHAIN AMINO ACIDS (valine, leucine, isoleucine & related organic acidaemias)
- Maple syrup urine disease
- Multiple carboxylase deficiencyIsovaleric acidaemia
- Propionic acidaemia
- Methylmalonic acidaemia
- 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
- ß-Ketothiolase deficiency (mitochondrial 3-keothiolase deficiency)
- 3-methyl glutaconic aciduria
DEFECTS IN METABOLISM OF CARBOHYDRATES
- Hereditary fructose intolerance
Disorder of Gluconeogenesis
- Fructose - 1,6-bisphosphatase deficiency
Glycogen Storage Disease
- GSD Type 1
Disorders of Glycerol Metabolism
- Glycerol kinase deficiency
DISORDERS OF AMMONIA DETOXIFICATION - UREA CYCLE DEFECTS
- Ornithine transcarbamylase (OTC) deficiency
- Carbamoylphosphate synthetase 1 (CPS) deficiency
- Argininosuccinic aciduria
- Citrullinaemia
- HHH syndrome (hyperammonaemia, hyperornithinaemia, homocitrullinuria)
Disorders of Amino Acids Transport
- Lysinuric protein intolerance (lysine, arginine and ornithine)
Dr. Simon Olpin
Principal Scientist
Sheffield Children's Hospital
6th August 2001
|
