Maple syrup urine disease
From Descipher Health
(Redirected from BCKD complex deficiency)
Description:
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Synonyms
MSUD, branched-chain alpha-keto dehydrogenase complex deficiency, BCKD complex deficiency
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Cause
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Population Distribution
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Effects
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Symptoms
Family History of MSUD, feeding difficulties, lethargy, vomiting, seizures, coma, avoidance of food
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Signs
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Diagnostic Tests
Amino acid disorder screening checks (blood or Urine)
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Differential Diagnosis
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Treatment
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Expected Outcome
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Prevention
get tests to treat them
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Medical References
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