Neonatal hyperinsulinism in transient and classical forms of tyrosinemia.

ABSTRACT:

Background

The spectrum of disorders associated with hyperinsulinemic hypoglycemia (HHI) has vastly increased over the past 20 years with identification of molecular, metabolic and cellular pathways involved in the regulation of insulin secretion and its actions. Hereditary tyrosinemia (HT1) is a rare metabolic disorder associated with accumulation of toxic metabolites of the tyrosine pathway due to a genetically mediated enzyme defect of fumarylacetoacetate hydrolase. Transient tyrosinemia of the newborn (TTN) is a benign condition with a maturational defect of the enzymes associated with tyrosine metabolism without any genetic abnormalities.

Results

We describe two rare cases of HHI, one in a patient with HT1 and for the first time, in a patient with TTN. Each of our patie

SUBMITTER: Sethuram S 

PROVIDER: S-EPMC8082838 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature