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Hyperglycinaemia without ketosis.

J Hyánek, R Pospisil, J Hoza

Acta Universitatis Carolinae. Medica. Monographia

|January 1, 1977

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A rare metabolic disorder was identified in a child with elevated glycine levels in urine and blood. Further clinical, metabolic, and genetic examinations were conducted on the family to understand this condition.

Area of Science:

Biochemistry
Genetics
Pediatrics

Background:

Screening for developmental delays can uncover rare metabolic disorders.
Glycine encephalopathy is a rare inherited metabolic disorder.

Observation:

A 5-year-old child presented with developmental delay and was found to have elevated urinary glycine excretion.
The child also exhibited high blood glycine levels, indicating a potential metabolic abnormality.

Findings:

The child was diagnosed with a rare metabolic disorder characterized by excessive glycine accumulation.
Clinical, metabolic, and genetic examinations were performed on the affected child and their family members.
Analysis revealed specific metabolic and genetic markers associated with the disorder.

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Implications:

Early detection of such metabolic disorders is crucial for timely intervention.
Understanding the genetic basis aids in family screening and genetic counseling.
This case highlights the importance of comprehensive metabolic screening in children with developmental delays.