Fructose-1,6-bisphosphatase deficiency
OMIM:229700Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | FBP1 |
|---|---|
| Reference transcript | NM_001127628.1 |
| DNA Change | c.685C>T |
| A.A. Change | p.Gln229Stop |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Prahl P, Christensen E, Hansen L, Mortensen HB.[Fructose 1,6-bisphosphatase deficiency as a cause of recessive serious hypoglycaemia]. Ugeskr Laeger. 2006 Nov 13;168(46):4014-5. |