Phosphoglycerate dehydrogenase deficiency
OMIM:601815Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | PHGDH |
|---|---|
| Reference transcript | NM_006623.3 |
| DNA Change | c.1273G>A |
| A.A. Change | p.Val425Met |
| Exon/Intron | exon 11 |
| Mutation Type | substitution |
| Reference | Klomp LW, de Koning TJ, Malingr? HE, van Beurden EA, Brink M, Opdam FL, Duran M, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van den Berg IE, Berger R.Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. Am J Hum Genet. 2000 Dec;67(6):1389-99. |