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Dyskinesia in a Child: A Concern for a Rare Neuro-Metabolic Disorder
Ayesha Hafeez1, Safia Fatima1, Nayyar Chaudhry1
1Department of Chemical Pathology and Endocrinology, AFIP, National University of Medical Sciences, Rawalpindi, Pakistan.
Insights
Glutaric aciduria Type 1 is a rare metabolic disorder. Early diagnosis through urine organic acid analysis is crucial for children presenting with neurological and developmental issues.
Area of Science:
- Biochemistry
- Pediatric Neurology
- Metabolic Disorders
Background:
- Glutaric aciduria Type 1 (GA1) is an inherited metabolic disorder affecting amino acid metabolism.
- It can lead to severe neurological complications if not diagnosed and treated promptly.
Observation:
- A 3-year-old child presented with dyskinesia, macrocephaly, developmental delay, and recurrent infections.
- Initial assessments and multiple hospitalizations did not yield a diagnosis.
Findings:
- Elevated ammonia, lactate, and metabolic acidosis suggested an organic acidemia.
- Gas chromatography-mass spectrometry confirmed markedly elevated glutaric acid levels in urine, establishing the diagnosis of GA1.
- Brain CT revealed subdural hygroma and cerebral changes consistent with the condition.
Implications:
- This case highlights the importance of considering GA1 in children with unexplained neurological and developmental symptoms.
- Timely diagnosis via urine organic acid analysis is critical for managing GA1 and preventing severe complications.
- Integrated clinical and biochemical findings are essential for accurate diagnosis of rare metabolic disorders.
Abstract:
A 3-year child is discussed who presented with dyskinesia, large head size, developmental delay, and recurrent infections necessitating multiple hospital admissions. The diagnosis was not made at initial presentation or even after multiple hospital admissions. An organic acidemia was suspected, based on raised ammonia and lactate levels and metabolic acidosis and the diagnosis of glutaric aciduria Type 1 was established by finding markedly elevated levels of glutaric acid and its specific metabolites on urine organic acids analysis by gas chromatography-mass spectrometry, in the setting of specific clinical features. Further supporting evidence was provided by CT scan brain showing subdural hygroma along left cerebral hemisphere causing gyral flattening and widening of sylvian fissure.
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