fructose-1,6-diphosphatase deficiency

Pathology: involved largely the liver Genetics: - autosomal recessive - deficiency of fructose-1,6-diphosphatase, FBP1 Clinical manifestations: 1) life-threatening episodes of hypoglycemia & lactic acidosis in newborn infants or young children 2) symptoms usually occur in response to infection or prolonged fast 3) hepatomegaly Laboratory: 1) hypoglycemia 2) lactic acidosis 3) ketoacidosis 4) hyperlipidemia 5) hyperuricemia

References

Clinical Diagnosis & Management by Laboratory Methods, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1991, pg 183