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Hyperinsulinism in tyrosinaemia type I.
U Baumann1, M A Preece, A Green
1The Liver Unit, Birmingham Children's Hospital, Birmingham, UK. Ulrich.Baumann@bch.nhs.uk
Journal of Inherited Metabolic Disease
|May 7, 2005
Summary
Hyperinsulinism is a common complication in Tyrosinemia type I (TT I), a liver disorder. Early diagnosis and treatment with diazoxide and chlorthiazide effectively manage persistent hypoglycemia in affected infants.
Area of Science:
- Biochemistry
- Pediatrics
- Endocrinology
Background:
- Tyrosinemia type I (TT I) presents with diverse clinical phenotypes and known pancreatic histological abnormalities.
- Pancreatic dysfunction, particularly insulin-dependent diabetes mellitus, is infrequently reported in TT I.
- Hyperinsulinism leading to persistent hypoglycemia is a potential, yet underrecognized, complication in TT I patients.
Purpose of the Study:
- To investigate the occurrence and management of hyperinsulinism in infants with Tyrosinemia type I.
- To assess the efficacy and safety of diazoxide and chlorthiazide in treating TT I-associated hyperinsulinism.
Main Methods:
- Case series reporting on three infants diagnosed with TT I and acute liver dysfunction.
- Monitoring of patients for persistent hypoglycemia despite dietary management.
- Treatment initiation with diazoxide and chlorthiazide, followed by gradual withdrawal.
Main Results:
- All three patients exhibited hyperinsulinism with persistent hypoglycemia in early infancy.
- One patient demonstrated inadequate lipolysis during hypoglycemic episodes.
- Successful management of hypoglycemia was achieved with diazoxide and chlorthiazide, with treatment withdrawn after 9, 13, and 34 months.
Conclusions:
- Hyperinsulinism is a significant complication in Tyrosinemia type I, necessitating C-peptide measurement in cases of persistent hypoglycemia.
- Diazoxide and chlorthiazide offer a safe and effective treatment for hyperinsulinism in TT I, without requiring lifelong administration.