Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference16 articles.
1. $beta;-HYDROXYISOVALERIC ACIDURIA AND $beta;-METHYLCROTONYLGLYCINURIA: A NEW INBORN ERROR OF METABOLISM
2. BIOTIN-RESPONSIVE β-METHYLCROTONYLGLYCINURIA
3. Child with a defect in leucine metabolism associated with beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria.
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1. Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System;Molecular Genetics and Metabolism;2016-05
2. Potential Misdiagnosis of 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Associated With Absent or Trace Urinary 3-Methylcrotonylglycine;Pediatrics;2007-11-01
3. Human Biotin-Containing Subunit of 3-Methylcrotonyl-CoA Carboxylase Gene (MCCA): cDNA Sequence, Genomic Organization, Localization to Chromosomal Band 3q27, and Expression;Genomics;2001-03
4. BIOTIN METABOLISM IN PLANTS;Annual Review of Plant Physiology and Plant Molecular Biology;2000-06
5. Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency;European Journal of Pediatrics;1999-08-05
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