Svensk definition
En autosomal, recessiv, ärftlig sjukdom som kommer till uttryck i flera fenotypformer, orsakad av en defekt i den oxidativa dekarboxyleringen av grenade aminosyror. Metaboliterna ansamlas i kroppsvätskor och ger upphov till lukt påminnande om lönnsirap. Sjukdomen uppdelas i typerna klassisk, intermediär, intermittent och tiaminreagerande. Den klassiska formen ger sig tillkänna under den första levnadsveckan med ketoacidos, hypoglykemi, kräkningar, krampanfall och högt blodtryck. De intermediära och intermittenta formerna uppträder i barnaåren eller senare, med akuta episoder av ataxi och kräkningar.
Engelsk definition
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)
Svenska synonymer
BCKD-brist — Intermediär lönnsirapsluktsjuka — Klassisk lönnsirapsluktsjuka — Intermittent lönnsirapsluktsjuka
Engelska synonymer
BCKD Deficiency — Keto Acid Decarboxylase Deficiency — MSUD (Maple Syrup Urine Disease) — Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency — Branched Chain alpha Keto Acid Dehydrogenase Deficiency — Branched-Chain Ketoaciduria — Branched Chain Ketoaciduria — Branched-Chain Ketoacidurias — Ketoaciduria, Branched-Chain — Ketoacidurias, Branched-Chain — Intermediate Maple Syrup Urine Disease — Maple Syrup Urine Disease, Intermediate — Maple Syrup Urine Disease, Thiamine Responsive — Thiamine Responsive Maple Syrup Urine Disease — Maple Syrup Urine Disease, Thiamine-Responsive — Classic Maple Syrup Urine Disease — Maple Syrup Urine Disease, Classic — Maple Syrup Urine Disease, Classical — Classical Maple Syrup Urine Disease — Intermittent Maple Syrup Urine Disease — Maple Syrup Urine Disease, Intermittent