Whole-body L-leucine oxidation in patients with variant form of maple syrup urine disease
- PMID: 11328944
- DOI: 10.1203/00006450-200105000-00004
Whole-body L-leucine oxidation in patients with variant form of maple syrup urine disease
Abstract
Whole-body L-leucine oxidation was assessed in patients with maple syrup urine disease of different severity using oral L-[1-(13)C]leucine bolus tests (38 micromol/kg body weight). Residual whole-body L-leucine oxidation was estimated on the basis of the 3-h kinetics of (13)CO(2) exhalation and (13)C-isotopic enrichment in plasma 4-methyl-2-oxopentanoate using a noncompartmental mathematical approach. In four patients with classical maple syrup urine disease (two females and two males; mean age, 13 +/- 5 y; range, 7--17 y), L-leucine oxidation was too low to be measurable. In two females (aged 11 and 15 y) with a severe variant form of the disease, whole-body L-leucine oxidation was reduced to about 4% of control. In six milder variants (two females and four males; mean age +/- SD, 15 +/- 10 y; range, 6--34 y), the estimates for residual whole-body L-leucine oxidation ranged from 19 to 86% (59 +/- 24%) of control and were substantially higher than the residual branched-chain 2-oxo acid dehydrogenase complex activities in the patients' fibroblasts (10--25% of control). Possible mechanisms are considered that might contribute to a comparatively high residual in vivo L-leucine oxidation in (mild) variant maple syrup urine disease.
Similar articles
-
Assessment of whole body L-leucine oxidation by noninvasive L-[1-13C]leucine breath tests: a reappraisal in patients with maple syrup urine disease, obligate heterozygotes, and healthy subjects.Pediatr Res. 1998 May;43(5):592-600. doi: 10.1203/00006450-199805000-00006. Pediatr Res. 1998. PMID: 9585004
-
Practical methods to estimate whole body leucine oxidation in maple syrup urine disease.Pediatr Res. 1993 May;33(5):445-51. doi: 10.1203/00006450-199305000-00005. Pediatr Res. 1993. PMID: 8511017
-
Effect of insulin on leucine kinetics in maple syrup urine disease.Pediatr Res. 1987 Jan;21(1):10-3. doi: 10.1203/00006450-198701000-00004. Pediatr Res. 1987. PMID: 3540829
-
Metabolism of branched-chain amino acids in maple syrup urine disease.Eur J Pediatr. 1997 Aug;156 Suppl 1:S62-6. doi: 10.1007/pl00014274. Eur J Pediatr. 1997. PMID: 9266218 Review.
-
[MAPLE SYRUP URINE DISEASE].Minerva Dietol. 1963 Oct-Dec;3:212-4. Minerva Dietol. 1963. PMID: 14115937 Review. Italian. No abstract available.
Cited by
-
Atypical phenotype in a boy with a maple syrup urine disease.J Inherit Metab Dis. 2006 Feb;29(1):195-200. doi: 10.1007/s10545-006-0224-0. J Inherit Metab Dis. 2006. PMID: 16601891
-
Duration of extracorporeal therapy in acute maple syrup urine disease: a kinetic model.Pediatr Nephrol. 2006 May;21(5):698-704. doi: 10.1007/s00467-006-0044-3. Epub 2006 Mar 4. Pediatr Nephrol. 2006. PMID: 16518628
-
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.Int J Neonatal Screen. 2021 May 14;7(2):25. doi: 10.3390/ijns7020025. Int J Neonatal Screen. 2021. PMID: 34069211 Free PMC article.
-
Variant maple syrup urine disease (MSUD)--the entire spectrum.J Inherit Metab Dis. 2006 Dec;29(6):716-24. doi: 10.1007/s10545-006-0276-1. Epub 2006 Oct 25. J Inherit Metab Dis. 2006. PMID: 17063375
-
Phenylbutyrate therapy for maple syrup urine disease.Hum Mol Genet. 2011 Feb 15;20(4):631-40. doi: 10.1093/hmg/ddq507. Epub 2010 Nov 23. Hum Mol Genet. 2011. PMID: 21098507 Free PMC article. Clinical Trial.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
