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[3 patients with maple syrup urine disease].
An Esp Pediatr. 1983 Nov; 19(5):393-400.AE

Abstract

Clinical manifestations, biochemistry and treatment of three patients with the inherited alteration of the so called maple syrup urine disease are presented. Diagnosis was based upon both detection of high concentrations of leucine, isoleucine, valine and their corresponding alpha-ketoacids in plasma and urine, and existence of a peculiar odor as well as an intense, progressive, neurological alteration. Considering the early onset of clinical symptoms, low protein tolerance and very reduced rate of leucine decarboxylation in cultured fibroblasts, the three patients exhibited grade I, classical type of this disease. None of them responded favorably to suprapharmacological doses of thiamine. Treatment of the patients is discussed and compared with that recommended in the literature.

Authors

Merinero B
No affiliation info available
del Valle JA
No affiliation info available
García MJ
No affiliation info available
García Miguel MJ
No affiliation info available
Barrio MI
No affiliation info available
García Hortelano J
No affiliation info available
Morales E
No affiliation info available
González F
No affiliation info available
García Aparicio J
No affiliation info available
Sáez Pérez E
No affiliation info available

MeSH

Amino Acids, Branched-ChainCells, CulturedFibroblastsHumansInfantInfant, NewbornLeucineMaleMaple Syrup Urine DiseaseThiamine

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

spa

PubMed ID

6660657

Citation

Merinero, B, et al. "[3 Patients With Maple Syrup Urine Disease]." Anales Espanoles De Pediatria, vol. 19, no. 5, 1983, pp. 393-400.
Merinero B, del Valle JA, García MJ, et al. [3 patients with maple syrup urine disease]. An Esp Pediatr. 1983;19(5):393-400.
Merinero, B., del Valle, J. A., García, M. J., García Miguel, M. J., Barrio, M. I., García Hortelano, J., Morales, E., González, F., García Aparicio, J., & Sáez Pérez, E. (1983). [3 patients with maple syrup urine disease]. Anales Espanoles De Pediatria, 19(5), 393-400.
Merinero B, et al. [3 Patients With Maple Syrup Urine Disease]. An Esp Pediatr. 1983;19(5):393-400. PubMed PMID: 6660657.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [3 patients with maple syrup urine disease]. A1 - Merinero,B, AU - del Valle,J A, AU - García,M J, AU - García Miguel,M J, AU - Barrio,M I, AU - García Hortelano,J, AU - Morales,E, AU - González,F, AU - García Aparicio,J, AU - Sáez Pérez,E, PY - 1983/11/1/pubmed PY - 1983/11/1/medline PY - 1983/11/1/entrez SP - 393 EP - 400 JF - Anales espanoles de pediatria JO - An Esp Pediatr VL - 19 IS - 5 N2 - Clinical manifestations, biochemistry and treatment of three patients with the inherited alteration of the so called maple syrup urine disease are presented. Diagnosis was based upon both detection of high concentrations of leucine, isoleucine, valine and their corresponding alpha-ketoacids in plasma and urine, and existence of a peculiar odor as well as an intense, progressive, neurological alteration. Considering the early onset of clinical symptoms, low protein tolerance and very reduced rate of leucine decarboxylation in cultured fibroblasts, the three patients exhibited grade I, classical type of this disease. None of them responded favorably to suprapharmacological doses of thiamine. Treatment of the patients is discussed and compared with that recommended in the literature. SN - 0302-4342 UR - https://www.unboundmedicine.com/medline/citation/6660657/[3_patients_with_maple_syrup_urine_disease]_ L2 - http://babysfirsttest.org/newborn-screening/conditions/maple-syrup-urine-disease-msud DB - PRIME DP - Unbound Medicine ER -