Preferred Label : Fructose-1,6-bisphosphatase deficiency;
Symbol : FBP1D;
CISMeF acronym : FBP1D;
Type : Phenotype, molecular basis known;
Description : Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder characterized
by impaired gluconeogenesis. Patients present with hypoglycemia and metabolic acidosis
on fasting and may have episodes of hyperventilation, apnea, hypoglycemia, and ketosis.
Although the disorder may be lethal in the newborn period, proper treatment yields
an excellent prognosis (Kikawa et al., 1997; Matsuura et al., 2002).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the fructose-1,6-bisphosphatase gene (FBP1, 611570.0001);
Laboratory abnormalities : Increased urinary glycerol; Decreased FBP1 enzyme activity;
Prefixed ID : #229700;
Origin ID : 229700;
UMLS CUI : C0016756;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)