Catalog
Pyruvate dehydrogenase complex deficiency
Link to WHO Definition
Pyruvate dehydrogenase complex deficiency – http://id.who.int/icd/entity/1124597954
Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterised by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal to later-onset neurological disorders.
Parents
Children
- Pyruvate dehydrogenase complex E1-alpha subunit deficiency
- Pyruvate dehydrogenase complex E3-binding protein deficiency
- Pyruvate dehydrogenase complex E1-beta subunit deficiency
- Pyruvate dehydrogenase complex E2 subunit deficiency
- Pyruvate dehydrogenase phosphatase deficiency
- Pyruvate dehydrogenase complex E3 subunit deficiency