At NCIMD, we see a lot of patients with classic metabolic disorders e.g. PKU for which there are well established treatments and best practise guidelines. We also see patients with newly described ultra-rare disorders e.g. LARS, where international collaboration is ongoing and essential to establish treatments.
Here are some of the disorders that we see:
- Familial Hypercholesterolaemia
- Galactosaemia
- Glutaric Aciduria Type 1 (GA1)
- Glycogen Storage Disorder (GSD)
- Homocystinuria (HCU)
- LARS
- LCHADD
- Lysosomal Storage Disorders
- Maple Syrup Urine Disease (MSUD)
- MCADD
- Mitochondrial Disorder
- Methylmalonic Acidaemia (MMA)
- Phenylketonuria (PKU)
- Propionic Acidaemia (PA)
- Tyrosinaemia Type 1
- Urea Cycle Disorders
- VLCADD
Vaccination update for inherited metabolic disorders
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