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Triglyceride storage disease. A report of two affected children associated with neurological abnormalities
Insights
This study investigates metabolic defects in children with congenital abnormalities and malnutrition. Findings suggest impaired triglyceride and glycogen mobilization due to primary metabolic issues in adipose tissue and liver.
Area of Science:
- Biochemistry
- Pediatrics
- Metabolic Disorders
Background:
- Congenital abnormalities can present with complex metabolic challenges.
- Severe malnutrition exacerbates underlying metabolic dysfunctions.
- Understanding lipid and glycogen metabolism is crucial for pediatric health.
Observation:
- Two children with congenital abnormalities (microcephaly, nystagmus, deafness, hepatomegaly) exhibited triglyceride deposits in adipose tissue and severe malnutrition.
- Peripheral adipose tissue showed reduced adenyl cyclase sensitivity to noradrenaline and impaired glycerol release.
- Abnormal liver glycogen deposits were noted in one child.
Findings:
- Peripheral adipose tissue demonstrated impaired lipolysis, indicated by reduced adenyl cyclase activity and glycerol release.
- Dysfunctional triglyceride mobilization in adipose tissue and glycogen mobilization in the liver was observed.
- These metabolic anomalies are linked to prolonged malnutrition in children with congenital defects.
Implications:
- A primary metabolic defect affecting triglyceride and glycogen mobilization may underlie these conditions.
- This highlights potential targets for therapeutic interventions in pediatric metabolic disorders.
- Further research is needed to elucidate the specific molecular mechanisms involved.
Abstract:
Two children are described with congenital abnormalities (microcephaly, nystagmus, deafness, hepatomegaly) and the anomalous feature of triglyceride deposits in peripheral adipose tissue associated with severe malnutrition. Peripheral adipose tissue of one of these children displayed: (a) reduced sensitivity of adenyl cyclase to stimulation by noradrenaline (b) no response in tissue levels of cyclic AMP when stimulated by isoprenaline and (c) impaired release of glycerol following stimulation with isoprenaline. The other child, with similar clinical features, showed abnormal deposits of glycogen in the liver. It is postulated that a primary metabolic defect occurs in peripheral adipose tissue (and possibly at other sites such as the liver) that interferes with triglyceride (and glycogen) mobilization during prolonged malnutrition.