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[Leucine sensitive hypoglycemia. Follow-up studies under treatment with diazoxide (author's transl)]
Insights
Leucine-sensitive hypoglycemia in infants can be managed with diazoxide and dietary protein restriction. Some patients experienced developmental issues despite treatment, highlighting the condition's severity.
Area of Science:
- Pediatric Endocrinology
- Metabolic Disorders
- Neonatal Care
Context:
- Leucine-sensitive hypoglycemia is a rare condition causing significant health risks in infants.
- Hyperinsulinism and islet cell hyperplasia are implicated in its pathogenesis.
- Long-term follow-up data on treatment efficacy and outcomes are crucial.
Purpose:
- To evaluate the effectiveness of diazoxide and dietary protein restriction in managing leucine-sensitive hypoglycemia.
- To assess the long-term outcomes and side effects of treatment in affected infants.
Summary:
- Four infants diagnosed with leucine-sensitive hypoglycemia were treated with diazoxide, with dosage up to 15 mg/kg.
- Two infants normalized blood glucose with diazoxide alone and showed normal development.
- The other two infants required additional protein intake restriction (2-2.5 g/kg) for effective glycemic control, but experienced varying degrees of neurodevelopmental impairment and seizures.
- Hypertrichosis was the sole observed side effect across all patients.
Impact:
- Diazoxide is an effective treatment for some cases of leucine-sensitive hypoglycemia.
- Dietary protein restriction is a critical adjunctive therapy for severe cases.
- Early diagnosis and intervention are vital to prevent severe neurological complications and developmental deficits.
Abstract:
Since 1969 leucine sensitive hypoglycemia has been diagnosed in 4 infants. Elevated serum insulin levels suggested hyperinsulinism; in 1 infant islet cell hyperplasia was demonstrated by morphological examination of pancreatic tissue. All cases were treated with diazoxide and have been followed under therapy for periods ranging from 4 months to 6 1/4 years. The upper limit of dosage was 15 mg/kg. The blood glucose values promptly became normal in 2 infants under this regimen. The development of these patients was normal. In the 2 other infants treatment was effective only after the additional restriction of daily protein intake to 2-2.5 g/kg. Severe cerebral damage occurred in one of these infants due to recurrent episodes of hypoglycemia, causing further development to be considerably restricted; the other one developed satisfactorily but with moderate mental retardation. Both children are suffering from cerebral convulsions. In all patients hypertrichosis was the only side effect.