Pyruvate Dehydrogenase Deficiency
Autoszomális recesszív
Caused by variants in PDHA1 (X-linked, often new in the child) or in PDHB, DLAT, PDHX, DLD, PDP1 or LIAS, which can cause lactic acidosis, developmental delay, seizures and movement problems.
Mit változtat a diagnózis
Knowing allows a ketogenic diet, avoidance of high-carbohydrate loads, and thiamine for responsive forms.
Más néven
PDH; PDHC; pyruvate decarboxylase deficiency; Pyruvate Dehydrogenase Complex Deficiency
7 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- lipoic acid synthetase deficiency
- pyruvate dehydrogenase E1-alpha deficiency
- pyruvate dehydrogenase E1-beta deficiency
- pyruvate dehydrogenase E2 deficiency
- pyruvate dehydrogenase E3 deficiency
- pyruvate dehydrogenase E3-binding protein deficiency
- pyruvate dehydrogenase phosphatase deficiency
