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MAPLE SYRUP URINE DISEASE
Author(s) -
DICKINSON J. P.,
HOLTON J. B.,
LEWIS G. M.,
LITTLEWOOD J. M.,
STEEL A. E.
Publication year - 1969
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1969.tb04730.x
Subject(s) - maple syrup urine disease , medicine , urine , disease , maple , amino acid , biochemistry , botany , chemistry , leucine , biology
Summary An infant with Maple Syrup Urine Disease was treated from six weeks of age with a synthetic diet containing carefully restricted quantities of branched chain aminoacids. There was a marked immediate improvement. At twelve weeks, gross vitamin deficiency developed and was corrected. The patient is now more than four‐and‐a‐half years old, and although in reasonable general health is quite severely retarded, both mentally and physically. The problems of diagnosis, the biochemical basis of dietary treatment and the laboratory requirements for control are discussed in relation to the 55 previously published cases.