Lacticacidemia due to PDX1 deficiency
OMIM:245349Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | PDHX |
|---|---|
| Reference transcript | NM_003477.2 |
| DNA Change | c.1182+2T>C |
| A.A. Change | p.Ile386SerfsX13 |
| Exon/Intron | intron 9 |
| Mutation Type | substitution |
| Reference | Tajir M, Arnoux JB, Boutron A, Elalaoui SC, De Lonlay P, Sefiani A, Brivet M.Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients. Eur J Med Genet. 2012 Oct;55(10):535-40. |