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Hyperglycinuria and hyperglycinemia in two siblings with mild developmental delays
American Journal of Diseases of Children (1960)
|August 1, 1978
Summary
Two siblings with developmental delays showed elevated glycine levels, indicating a potential defect in glycine metabolism. This suggests a link between high glycine and central nervous system issues, even without severe symptoms.
Area of Science:
- Biochemistry
- Neurology
- Genetics
Background:
- Nonketotic hyperglycinemia (NKH) is a rare metabolic disorder.
- NKH typically presents with severe neonatal illness, encephalopathy, and developmental delay.
- A defect in the glycine-cleavage enzyme system is the primary cause of NKH.