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Maple syrup urine disease variant: Report on an infant

✍ Scribed by Koepp, P. ;Rybak, Ch. ;R�diger, H. W. ;Wendel, U.

Publisher
Springer-Verlag
Year
1974
Weight
413 KB
Volume
116
Category
Article
ISSN
0044-2917

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✦ Synopsis

Clinical course and laboratory findings including enzymatic studies in leukocytes and cultured fibroblasts are reported in an infant with a variant form of maple-syrup urine disease.

Presenting symptoms in the age of 7 months were coma, ataxia and gross developmental retardation. Therapy consisted of restricted leucine a]lowance according to the patients tolerance. With a protein-poor regimen the patient remained free of symptoms and his developmental age corresponded to his chronological ~ge at the age of 18 months.

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