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Maple syrup urine disease. Two cases in Israel
Israel Journal of Medical Sciences
|August 1, 1975
Summary
Two infants in Israel with maple syrup urine disease (MSUD) showed different clinical courses and treatment responses. Genetic differences likely explain varying severity and therapeutic needs in this rare metabolic disorder.
Area of Science:
- Metabolic disorders
- Genetics
- Pediatric neurology
Background:
- Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder.
- It is characterized by the inability to metabolize branched-chain amino acids (BCAAs), leading to their accumulation.
- Classic MSUD presents in infancy with severe neurological symptoms.
Observation:
- This report details the first two confirmed cases of MSUD in Israel.
- The patients presented with distinct clinical courses and neurological symptomatology.
- Blood leucine levels varied significantly between the two infants.
Findings:
- The first infant had extremely high leucine levels, requiring peritoneal dialysis and dietary management.
- The second infant had moderately elevated leucine levels, managed effectively with dietary treatment alone.
- Neither patient responded to thiamine hydrochloride, suggesting non-thiamine-responsive forms of classic MSUD.
Implications:
- These cases highlight the phenotypic variability within classic MSUD, likely due to different genotypes.
- Early diagnosis and tailored therapeutic strategies, including dietary interventions and potentially dialysis, are crucial.
- Further genetic investigation is warranted to understand the molecular basis of MSUD in these patients.