fructose-1,6-diphosphatase deficiency

Pathology

involved largely the liver

Genetics

• autosomal recessive
• deficiency of fructose-1,6-diphosphatase, FBP1

Clinical manifestations

• life-threatening episodes of hypoglycemia & lactic acidosis in newborn infants or young children
• symptoms usually occur in response to infection or prolonged fast
• hepatomegaly

Laboratory

• hypoglycemia
• lactic acidosis
• ketoacidosis
• hyperlipidemia
• hyperuricemia

More general terms

• carbohydrate inborn error of metabolism

Additional terms

• fructose-1,6-diphosphatase

Database

• OMIM: https://mirror.omim.org/entry/229700