ArticleJournal of inherited metabolic disease2000
Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation.
Article in Journal of inherited metabolic disease, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 34 citations in OpenAlex.
- Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.Nature communications · 2022Article
- Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.Molecular genetics and metabolism reports · 2021Article
- Ataxia in children: early recognition and clinical evaluation.Italian journal of pediatrics · 2017Review
- Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor.JIMD reports · 2016Article
- Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.Human molecular genetics · 2014Review
- Drosophila miR-277 controls branched-chain amino acid catabolism and affects lifespan.RNA biology · 2013Article
- Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.American journal of human genetics · 2011Article
- Hepatocyte transplantation improves phenotype and extends survival in a murine model of intermediate maple syrup urine disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2009Article
- Animal models of maple syrup urine disease.Journal of inherited metabolic disease · 2009Review
- Production and characterization of murine models of classic and intermediate maple syrup urine disease.BMC medical genetics · 2006Article
- Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation.Journal of inherited metabolic disease · 2000Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We characterized the effect of orthotopic liver transplantation on the catabolism of branched-chain L-amino acids in a female patient with classical form of maple syrup urine disease. Transplantation was performed at the age of 7.4 years due to a terminal liver failure triggered by a hepatitis A infection. Since then, the patient is on an unrestricted diet and plasma concentrations of branched-chain L-amino and 2-oxo acids are stable, yet at moderately increased levels (2- to 3-fold of control). L-Alloisoleucine concentrations, however, remained remarkably elevated (> 5-fold of control). In vivo catabolism was investigated by measuring the metabolic L-alloisoleucine clearance and whole-body leucine oxidation in the postabsorptive state. In an oral loading test with 580 micromol alloisoleucine per kg body wt, the L-alloisoleucine elimination rate constant (0.067 h(-1)) was in the normal range (0.069+/-0.012 h(-1), n = 4). In an oral L-[1-13C]leucine load (38 micromol/kg body wt), 19.5% of the tracer dose applied was recovered in exhaled 13CO2 versus 18.9+/-3.6% in healthy subjects (n = 10). Thus, the patient exhibited obviously normal whole-body catabolic rates although branched-chain L-amino acid oxidation was confined to the liver transplant. Most likely, the enhanced substrate supply from extrahepatic sources led to an elevation of the plasma concentrations and thus induced a compensatory enhancement of the metabolic flux through the branched-chain 2-oxo acid dehydrogenase complex in the intact liver tissue.
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