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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
1977-12-29
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pubmed:abstractText |
The abnormal metabolites 3-hydroxypropionic acid (1.6-4.0 mg/day) and methylcitric acid (3.7-5.8 mg/day) were identified and quantitated in the urine of a patient in whom biotin-responsive 3-methylcrotonylglycinuria and deficiency of 3-methylcrotonyl-CoA carboxylase had previously been documented. The level of excretion of these metabolites was in the lower range of those found in patients with propionic acidemia in whom there is a deficiency of propionyl-CoA carboxylase. The activity of this enzyme in fibroblasts derived from the patient and grown in media low in biotin was 4% of normal. This is the range of patients with propionyl-CoA carboxylase deficiency. Documented deficiency in this patient of two carboxylase, both of which contain biotin, suggests that the primary defect is in the metabolism of biotin.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0031-3998
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
11
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1144-7
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:917614-Biotin,
pubmed-meshheading:917614-Carboxy-Lyases,
pubmed-meshheading:917614-Citrates,
pubmed-meshheading:917614-Creatinine,
pubmed-meshheading:917614-Crotonates,
pubmed-meshheading:917614-Fibroblasts,
pubmed-meshheading:917614-Glycine,
pubmed-meshheading:917614-Humans,
pubmed-meshheading:917614-Infant,
pubmed-meshheading:917614-Leucine,
pubmed-meshheading:917614-Male,
pubmed-meshheading:917614-Propionates,
pubmed-meshheading:917614-Renal Aminoacidurias
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pubmed:year |
1977
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pubmed:articleTitle |
Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria.
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pubmed:publicationType |
Journal Article
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