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DeCS
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Descriptor English:
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Maple Syrup Urine Disease
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Descriptor Spanish:
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Enfermedad de la Orina de Jarabe de Arce
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Descriptor Portuguese:
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Doença da Urina de Xarope de Bordo
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Synonyms English:
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BCKD Deficiency
Branched Chain Ketoaciduria
Branched Chain alpha Keto Acid Dehydrogenase Deficiency
Branched-Chain Ketoaciduria
Branched-Chain Ketoacidurias
Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency
Classic Maple Syrup Urine Disease
Classical Maple Syrup Urine Disease
Intermediate Maple Syrup Urine Disease
Intermittent Maple Syrup Urine Disease
Keto Acid Decarboxylase Deficiency
Ketoaciduria, Branched-Chain
Ketoacidurias, Branched-Chain
MSUD (Maple Syrup Urine Disease)
Maple Syrup Urine Disease, Classic
Maple Syrup Urine Disease, Classical
Maple Syrup Urine Disease, Intermediate
Maple Syrup Urine Disease, Intermittent
Maple Syrup Urine Disease, Thiamine Responsive
Maple Syrup Urine Disease, Thiamine-Responsive
Thiamine Responsive Maple Syrup Urine Disease
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Tree Number:
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C10.228.140.163.100.520
C16.320.565.100.608
C16.320.565.189.520
C18.452.132.100.520
C18.452.648.100.608
C18.452.648.189.520
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Definition English:
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An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936) |
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Allowable Qualifiers English:
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Record Number:
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8547
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Unique Identifier:
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D008375
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Occurrence in VHL:
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Similar:
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DeCS
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