Linked Life Data

6632715

Source:http://linkedlifedata.com/resource/pubmed/id/6632715

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1983-12-20
pubmed:abstractText
A variant form of maple syrup urine disease (grade II) in a twelve year old boy is reported. The clinical picture was characterized by seizure-like episodes of confusion and intermittent ataxia. The diagnosis was made by showing an increased excretion of branched-chain alpha-hydroxy acids as well as evaluated plasma concentrations of the branched-chain aminoacids and alpha-ketoacids. There was a decrease of leucine degradation in cultured fibroblasts to 5 to 6% of normal. The treatment with thiamine-hydrochlorid remained without any clinical or biochemical effect in our patient. Further neurologic symptoms during acute episodes of vomiting could be avoided by dietary protein restriction and early parenteral glucose supplementation.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0300-8630
pubmed:author
pubmed:issnType
Print
pubmed:volume
195
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
351-4
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
[Intermittent maple syrup urine disease in a 12-year-old boy: clinical aspects, diagnosis and treatment].
pubmed:publicationType
Journal Article, English Abstract, Case Reports