Related Experiment Videos
Hyperglycinaemia without ketosis
Acta Universitatis Carolinae. Medica. Monographia
|January 1, 1977
Insights
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.
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.
Abstract:
When screening mentally backward children we detected a 5-year-old child with elevated urinary glycine excretion and a high blood glycine level. The report discusses the results of a clinical, metabolic and genetic examination of the child and the members of his family with reference to this rare metabolic disorder.