Homocystinuria due to methylene tetrahydrofolate reductase deficiency
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Interdisziplinäres pädiatrisches Stoffwechselzentrum am Universitätsklinikum Leipzig
Universitätsklinikum Leipzig Universitäres Zentrum für Seltene Erkrankungen Leipzig (UZSEL)
Liebigstraße 20a
04103 Leipzig
0341 9726242
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0341 9726242
0341 9726229
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- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Galactosemia
- Argininosuccinic aciduria
- Maple syrup urine disease
- Ornithine transcarbamylase deficiency
- Biotinidase deficiency
- Isovaleric acidemia
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Very long chain acyl-CoA dehydrogenase deficiency
- Propionic acidemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Congenital glucokinase-related hyperinsulinism
- Carbamoyl-phosphate synthetase 1 deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Phenylketonuria