Our area of diagnostic and clinical expertise includes:
- Amino acid disorders (e.g. phenylketonuria (PKU), marple sirup urine disease (MSUD), tyrosinaemia,…)
- Disorders of carbohydrate metabolism (e.g. all types of glycogen storage disease, galaktosaemia, Fanconi Bickel syndrome,…)
- Disorders of carnitine metabolism (e.g. carnitine palmitoyltransferase deficiency 1/2 (CPT 1/2), carnitine transporter deficiency,…)
- Disorders of cholesterol metabolism (e.g. Smith-Lemli-Opitz syndrome, ….)
- Congenital disorders of glycosylation (e.g. phosphomannomutase deficiency, mannosidase alpha deficiency,…)
- Disorders of creatine biosynthesis (creatine transporter deficiency, GAMT deficiency, AGAT deficiency,…)
- Fatty acid oxidation disorders (medium chain acyl CoA dehydrogenase deficiency (MCADD), (very) long chain chain acyl CoA dehydrogenase deficiency (VLCADD, LCHADD), mitochondrial trifunctional protein deficiency (MTPD))
- Homocystinuria
- Disorders of ketogenesis and ketolysis
- Lysosomal disorders (e.g. Fabry disease, mucopolysaccharidosis, )
- Methylation defects
- Mitochondrial diseases (e.g. MELAS syndrome, kearns sayre syndrome, POLG-deficiency,…)
- Organic acidurias (e.g. methylmalonic aciduria, propionic aciduria, isovaleric aciduria,…)
- Peroxisomal disorders (e.g. Zellweger syndrome,…)
- Disorders of purine and pyrimidine metabolism (e.g. Lesch Nyhan syndrome,…)
- Urea cycle defects (ornithine transcarbamylase deficiency, Citrullinaemia, Argininosuccinate lyase deficiency,…)
- Other rare metabolic defects