Maple syrup diseaseE71.0
Synonym(s)
Branched-chain decarboxylase deficiency syndrome; Branched Chain Decarboxylase Deficiency Syndrome; Keto acid decarboxylase deficiency; Leucinosis; maple syrup urine disease; Maple syrup urine syndrome; MSUD
HistoryThis section has been translated automatically.
Menkes, Hurst and Craig, 1954
DefinitionThis section has been translated automatically.
Rare, autosomal recessive inherited amino acid metabolism disorder with progressive neurological deficits in infancy.
Occurrence/EpidemiologyThis section has been translated automatically.
Incidence (Federal Republic of Germany) approx. 1/200,000 births. Common in populations with an increased proportion of kosanguine compounds, e.g. Mennonites (Pennsylvania, USA).
EtiopathogenesisThis section has been translated automatically.
Genetic defects of the common decarboxylase of the alpha-keto acids of the 3 branched-chain amino acids leucine, isoleucine and valine (accumulation in blood and urine)
ManifestationThis section has been translated automatically.
A few days after the birth.
Clinical featuresThis section has been translated automatically.
- In the foreground is a progressive neurological symptomatology with weakness in drinking, areflexia, muscular hyper- or hypotension, seizures, spasticity, and finally rigidity of decerebration. Maggi-like smell of urine (similar to American maple syrup).
- Skin: Thickened, dry. Dull, fragile, sparse hair.
DiagnosisThis section has been translated automatically.
Tandem-MS. Strongly elevated levels of leucine, valine, isoleucine and alloisoleucine in plasma as well as strongly increased excretion of 2-oxoisocaproic, 2-oxoisovaleric and 3-oxo-3-methylvaleric acid and the respective hydroxy analogues in urine are evidence of maple syrup disease.
TherapyThis section has been translated automatically.
Lifelong diet with restriction of the branched-chain amino acids leucine, valine, isoleucine (leucine concentration in plasma should be below 4 mg/dl (300 µmol/l) in the long term) Emergency therapy: glucose infusions with insulin, exchange transfusions, peritoneal dialysis.
Progression/forecastThis section has been translated automatically.
Permanent damage can only be avoided if therapy is started in the first days of life. Untreated death after a few months.
LiteratureThis section has been translated automatically.
- Ha JS et al (2004) Maple syrup urine disease encephalopathy: a follow-up study in the acute stage using diffusion-weighted MRI. Pediatric radiol 34: 163-166
- Harris RA et al (2004) Mechanisms responsible for regulation of branched-chain amino acid catabolism. Biochem Biophys Res Commun 313: 391-396
- Menkes JH, Hurst PL, Craig JM (1954) A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance. Pediatrics 14: 462-467
- Parmar H et al (2004) Maple syrup urine disease: diffusion-weighted and diffusion-tensor magnetic resonance imaging findings. J Comput Assist Tomogr 28: 93-97