Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 23-04-2009

Symbol	FBP1D
Location	9q22.32
Name	fructose-1,6-biphosphatase 1 deficiency
Corresponding gene	FBP1
Main clinical features	episodic spells of hyperventilation, apnea, hypoglycemia, metabolic acidosis and lactic acidosis with a risk of lethal course in the newborn
Genetic determination	autosomal recessive
Function/system disorder	metabolism/carbohydrates
Type	disease

Gene product

Name	fructose 1,6-biphosphatase (FBP1)

Remark(s)