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Intermittent form of maple syrup urine disease: report of one case
1Department of Pediatrics, Taichung Veterans General Hospital, Taiwan, R.O.C.
Insights
This case study describes an infant with intermittent Maple Syrup Urine Disease (MSUD) presenting with metabolic acidosis and neurological symptoms. Despite initial misdiagnosis as a mitochondrial disorder, the case highlights diagnostic challenges in MSUD.
Area of Science:
- Biochemistry
- Pediatric Neurology
- Metabolic Disorders
Background:
- Maple Syrup Urine Disease (MSUD) is a rare inherited metabolic disorder.
- An intermittent form of MSUD can present with delayed or atypical symptoms.
- Early diagnosis and management are crucial for preventing severe neurological complications.
Observation:
- A Chinese female infant presented with intermittent episodes of stupor and metabolic acidosis after 13 months of age.
- Initial plasma amino acid and urinary organic acid analyses were normal.
- Brain MRI revealed high signal in the bilateral globus pallidus, initially suggesting a mitochondrial disorder.
Findings:
- The patient experienced three episodes of stupor and metabolic acidosis concurrent with illness.
- An abnormal oral glucose lactate stimulation test contributed to the initial suspicion of a mitochondrial disorder.
- The final diagnosis of MSUD was confirmed posthumously at 31 months of age.
Implications:
- This case underscores the diagnostic challenges associated with intermittent MSUD, particularly when initial metabolic screening is normal.
- It highlights the importance of considering MSUD in infants presenting with unexplained metabolic acidosis and neurological symptoms, even with atypical presentations.
- The case emphasizes the need for comprehensive diagnostic approaches, including genetic testing, for rare metabolic disorders.
Abstract:
We present a Chinese female infant with an intermittent form of MSUD whose early development was relatively well. A total of three episodes of stupor and metabolic acidosis developed with a concurrent illness after the age of 13 months. The initial analyses of plasma amino acid and urinary organic acid were normal. Initially, an abnormal oral glucose lactate stimulation test and high signal in the bilateral globus pallidus over T2-weighted brain MRI led us to suspect a mitochondrial disorder. The final diagnosis was made after the patient died at 31 months of age.