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Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy
G Uziel1, B Garavaglia, E Ciceri
1Department of Child Neurology, Istituto Neurologico C. Besta, Milan, Italy.
Pediatric Neurology
|November 1, 1995
Summary
Glutaric aciduria type II can cause leukodystrophy, a type of brain damage, even without acute metabolic distress. Early riboflavin treatment shows significant improvement in affected children.
Area of Science:
- Biochemistry
- Neurology
- Genetics
Background:
- Multiple acyl-CoA dehydrogenase deficiency (MADD) typically presents with hypoketotic hypoglycemia and myopathy in infancy.
- Brain damage in MADD is usually linked to severe, prolonged hypoglycemia.
- Leukodystrophy is a group of inherited disorders affecting white matter of the brain.
Observation:
- A 3-year-old child developed progressive neurological symptoms including tremors, ataxia, and spastic tetraparesis without acute metabolic distress.
- MRI revealed white matter abnormalities suggestive of leukodystrophy.
- Urinalysis showed elevated glutaric acid, dicarboxylic acids, and glycine derivatives.
Findings:
- This case suggests Glutaric aciduria type II can manifest as a leukodystrophy with neurological decline.
- The absence of acute metabolic distress in this patient broadens the clinical presentation of MADD.
- Riboflavin supplementation led to rapid clinical improvement.
Implications:
- Glutaric aciduria type II should be considered in the differential diagnosis of childhood leukodystrophies.
- Early diagnosis and treatment with riboflavin may prevent or reverse neurological damage.
- This case highlights the importance of biochemical screening in unexplained neurological disorders.