Familial hyperglycerolemia

C I Rose , D S Haines

The Journal of Clinical Investigation +

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January 1, 1978

View abstract on PubMed

Summary

This study identifies a rare genetic disorder causing elevated serum glycerol levels and increased urinary glycerol excretion. The defect lies in glycerol metabolism within leukocytes, suggesting an X-linked recessive inheritance pattern.

Area Of Science

Biochemistry
Human Genetics
Metabolic Disorders

Background

Glycerol is a key metabolic intermediate, but its regulation is not fully understood.
Genetic defects in glycerol metabolism can lead to significant health issues.

Observation

A patient presented with markedly elevated serum free glycerol (75 mg/dl) and high urinary glycerol excretion (13 g/24h), increasing during fasting.
In vitro studies using patient leukocytes showed a near-complete absence of glycerol oxidation and phosphorylation.
Leukocyte homogenates exhibited negligible glycerokinase activity (EC 2.7.1.30).

Findings

Identified a novel genetic defect in glycerol metabolism characterized by impaired glycerol oxidation and phosphorylation.
Demonstrated negligible glycerokinase enzyme activity in affected individuals' leukocytes.
Observed hyperglycerolemia and excessive urinary glycerol loss as key biochemical markers.

Implications

This discovery sheds light on a rare metabolic disorder affecting glycerol homeostasis.
The findings suggest an X-linked recessive inheritance pattern for this glycerol metabolism defect.
Potential links between glycerol metabolism and diabetes mellitus prevalence in affected families warrant further investigation.

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