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D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction
W J Craigen1, C Jakobs, E A Sekul
1Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
Pediatric Neurology
|February 1, 1994
Summary
A newborn with D-2-hydroxyglutaric aciduria presented with severe neurological symptoms. This case highlights a distinct clinical presentation and enables prenatal diagnosis of this rare metabolic disorder.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- D-2-hydroxyglutaric aciduria is a rare metabolic disorder.
- Understanding its clinical spectrum and genetic basis is crucial for diagnosis and management.
Observation:
- A newborn exhibited seizures, hypotonia, cortical blindness, movement disorder, and developmental delay.
- This patient's presentation differed from previously reported cases of D- and L-2-hydroxyglutaric aciduria.
- Elevated cerebrospinal fluid gamma-aminobutyric acid levels were noted, with normal biogenic amine metabolites.
Findings:
- The observed movement disorder suggests basal ganglia involvement in D-2-hydroxyglutaric aciduria.
- The distinct clinical phenotype aids in differentiating it from L-2-hydroxyglutaric aciduria.
- Prenatal diagnosis was successfully achieved in a subsequent pregnancy.
Implications:
- This case expands the known clinical spectrum of D-2-hydroxyglutaric aciduria.
- Early diagnosis and intervention can potentially improve outcomes for affected individuals.
- The findings support the utility of prenatal diagnosis for at-risk families.