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Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD.
Pediatr Res. 2006 Jan; 59(1):17-20.PR

Abstract

Maple syrup urine disease (MSUD) is an inherited deficiency of branched chain alpha-ketoacid dehydrogenase (BCKDH) activity impairing the degradation of the branched chain amino acids valine, leucine, and isoleucine. Classic MSUD may lead to severe neonatal encephalopathy including coma and impaired cognitive outcome in later life. Early start of dietary treatment and careful metabolic control may improve the outcome of patients with classic MSUD. The aim of this study was to investigate the impact of long-term metabolic control assessed by plasma leucine levels on cognitive outcome in patients with classic MSUD. Plasma leucine levels of 24 patients were obtained retrospectively for the first 6 y of life and yearly medians of mean plasma leucine levels were calculated. At the age of 6 y, IQ tests were performed. Yearly medians of mean plasma leucine levels yielded three homogeneous clusters (low, intermediate, high). Patients of the low cluster showed statistically significant higher IQ scores compared with those of those of intermediate and high clusters. Long-term plasma leucine levels are associated with impaired cognitive outcome in patients with classic MSUD. To achieve the best possible intellectual outcome for affected individuals, we recommend that in infants and preschool children the target range for plasma leucine should not exceed 200 micromol/L.

Authors+Show Affiliations

Department of General Pediatrics, Heinrich-Heine-University, Duesseldorf, Germany.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Clinical Trial
Journal Article
Multicenter Study

Language

eng

PubMed ID

16326996

Citation

Hoffmann, Björn, et al. "Impact of Longitudinal Plasma Leucine Levels On the Intellectual Outcome in Patients With Classic MSUD." Pediatric Research, vol. 59, no. 1, 2006, pp. 17-20.
Hoffmann B, Helbling C, Schadewaldt P, et al. Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD. Pediatr Res. 2006;59(1):17-20.
Hoffmann, B., Helbling, C., Schadewaldt, P., & Wendel, U. (2006). Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD. Pediatric Research, 59(1), 17-20.
Hoffmann B, et al. Impact of Longitudinal Plasma Leucine Levels On the Intellectual Outcome in Patients With Classic MSUD. Pediatr Res. 2006;59(1):17-20. PubMed PMID: 16326996.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD. AU - Hoffmann,Björn, AU - Helbling,Christoph, AU - Schadewaldt,Peter, AU - Wendel,Udo, Y1 - 2005/12/02/ PY - 2005/12/6/pubmed PY - 2006/2/2/medline PY - 2005/12/6/entrez SP - 17 EP - 20 JF - Pediatric research JO - Pediatr Res VL - 59 IS - 1 N2 - Maple syrup urine disease (MSUD) is an inherited deficiency of branched chain alpha-ketoacid dehydrogenase (BCKDH) activity impairing the degradation of the branched chain amino acids valine, leucine, and isoleucine. Classic MSUD may lead to severe neonatal encephalopathy including coma and impaired cognitive outcome in later life. Early start of dietary treatment and careful metabolic control may improve the outcome of patients with classic MSUD. The aim of this study was to investigate the impact of long-term metabolic control assessed by plasma leucine levels on cognitive outcome in patients with classic MSUD. Plasma leucine levels of 24 patients were obtained retrospectively for the first 6 y of life and yearly medians of mean plasma leucine levels were calculated. At the age of 6 y, IQ tests were performed. Yearly medians of mean plasma leucine levels yielded three homogeneous clusters (low, intermediate, high). Patients of the low cluster showed statistically significant higher IQ scores compared with those of those of intermediate and high clusters. Long-term plasma leucine levels are associated with impaired cognitive outcome in patients with classic MSUD. To achieve the best possible intellectual outcome for affected individuals, we recommend that in infants and preschool children the target range for plasma leucine should not exceed 200 micromol/L. SN - 0031-3998 UR - https://www.unboundmedicine.com/medline/citation/16326996/Impact_of_longitudinal_plasma_leucine_levels_on_the_intellectual_outcome_in_patients_with_classic_MSUD_ L2 - https://doi.org/10.1203/01.pdr.0000190571.60385.34 DB - PRIME DP - Unbound Medicine ER -