Pyruvate dehydrogenase deficiency - Sanjay Manohar's Medical Browser
Pyruvate dehydrogenase deficiency
external
Synonyms
PDH deficiency
Causes
PDHA1 gene mutation
Effects
Nausea and vomiting
Respiratory depression
Mental retardation
Myotonia
Seizure
Hereditary lactate acidosis
Parents
Haematological pathology
X-Linked recessive congenital metabolic disease
Description
"PDHA1 gene mutation Lactic acidosis"
Type item name:
Sanjay Manohar
2006