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Glutaric aciduria type I presenting with hypoglycaemia
Insights
Glutaric aciduria (glutaryl CoA-dehydrogenase deficiency) in a child presented with neurological symptoms and hypoglycemia. Early diagnosis and treatment with riboflavin and a GABA analogue halted neurological decline.
Area of Science:
- Biochemistry
- Pediatric Neurology
- Metabolic Disorders
Background:
- Glutaryl CoA-dehydrogenase deficiency (GCDHD), also known as type I glutaric aciduria, is an inherited metabolic disorder affecting amino acid metabolism.
- It can lead to severe neurological complications if left untreated.
Observation:
- A pediatric case presenting with bilateral subdural hydromas, progressive choreoathetosis, and dysarthria.
- Diagnosis was established at 3.5 years during investigation for hypoglycemia.
- Temporary adrenocortical insufficiency was also observed.
Findings:
- The patient received treatment with riboflavin and 'lioresal' (a GABA analogue).
- Three years post-diagnosis, the adrenal insufficiency and hypoglycemia resolved.
- Neurological deterioration was prevented with the implemented treatment.
Implications:
- This case highlights the importance of early diagnosis and intervention in glutaric aciduria.
- Combination therapy may be effective in managing neurological symptoms and metabolic disturbances.
- Further research into GCDHD management strategies is warranted.
Abstract:
We present a child with glutaryl CoA-dehydrogenase deficiency (type I glutaric aciduria) who presented with bilateral subdural hydromas, and progressive choreoathetosis and dysarthria. The diagnosis was made when she was investigated for hypoglycaemia at the age of 3.5 years. Temporary adrenocortical insufficiency was also noted. Three years after diagnosis the adrenal insufficiency and hypoglycaemia have resolved and treatment with riboflavin and 'lioresal', a GABA analogue, has prevented any further neurological deterioration.