Maple syrup urine disease (MSUD) is caused by branched-chain alpha-ketoacid dehydrogenase deficiency which affects the degradation of branched-chain amino acids leucine, isoleucine, and valine. The early onset classic form manifests after birth by lethargy, poor feeding and neurological signs of intoxication. Late onset forms manifest usually within the first year of life with irritability and extrapyramidal movements which untreated may progress to lethargy and ketoacidotic coma. Repeated episodes result in progressive brain atrophy and intellectual disability. in some patients the initial presentation is quite unspecific including hypotonia, failure to thrive and developmental delay. Thiamine-responsive MSUD is a very rare form characterized by improvement of the biochemical profile with thiamine therapy. (Source: Orphanet)
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