Ontology highlight
ABSTRACT:
SUBMITTER: Sharma AG
PROVIDER: S-EPMC6066631 | biostudies-literature | 2018 Jul-Sep
REPOSITORIES: biostudies-literature
Sharma A G AG Kanwal S K SK Chhapola V V Kumar V V
Journal of postgraduate medicine 20180701 3
Fructose-1, 6-bisphosphatase 1 (FBP1) deficiency is an autosomal recessive disorder of gluconeogenesis resulting in severe and recurrent life-threatening episodes of hypoglycemia and lactic acidosis in infancy. We report a 16 month-old girl who presented with recurrent episodes of vomiting, rapid breathing, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Genetic analysis revealed a novel compound heterozygous mutation in FBP1 gene confirming the diagnosis of FBP1 deficiency. The patien ...[more]