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Cardiac Abnormalities in One Case of Maple Syrup Urine Disease
Author(s) -
ECKERD JOHN M.,
HANSEN JAMES
Publication year - 1994
Publication title -
echocardiography
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.404
H-Index - 62
eISSN - 1540-8175
pISSN - 0742-2822
DOI - 10.1111/j.1540-8175.1994.tb01057.x
Subject(s) - maple syrup urine disease , valine , isoleucine , maple , urine , medicine , leucine , heart disease , cardiology , disease , endocrinology , amino acid , chemistry , biology , biochemistry , botany
Classic Maple Syrup Urine Disease is a rare and serious metabolic disorder caused by inability to metabolize leucine, valine, and isoleucine properly. Accumulation of branched chain ketoacids leads to impairment of all vital organs, including the heart. Corrected QT index is prolonged during the early stages of the disorder. Quantitative Doppler demonstrates abnormalities in ventricular compliance and relaxation characteristics. Maple Syrup Urine Disease, myocardial diseases, echocardiography, Doppler, long QT syndrome