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Dictionary » Branched-chain keto acid decarboxylase deficiency
 

Branched-chain keto acid decarboxylase deficiency

Introduction: Branched-chain keto acid decarboxylase deficiency

Description of Branched-chain keto acid decarboxylase deficiency

Branched-chain keto acid decarboxylase deficiency: 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)
Source: Diseases Database

Branched-chain keto acid decarboxylase deficiency: Related Topics

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Source: Diseases Database

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  • Closed fracture of vault of skull with intracranial injury of other and unspecified nature, with loss of consciousness of unspecified duration
  • Closed fracture of vault of skull with intracranial injury of other and unspecified nature, with moderate [1-24 hours] loss of consciousness
  • Closed fracture of vault of skull with intracranial injury of other and unspecified nature, with no loss of consciousness
  • Closed fracture of vault of skull with intracranial injury of other and unspecified nature, with prolonged [more than 24 hours] loss of consciousness and return to pre-existing conscious level
  • Closed fracture of vault of skull with intracranial injury of other and unspecified nature, with prolonged [more than 24 hours] loss of consciousness, without return to pre-existing conscious level
  • Closed fracture of vault of skull with intracranial injury of other and unspecified nature, with state of consciousness unspecified
  • Closed fracture of vault of skull with other and unspecified intracranial hemorrhage
  • Closed fracture of vault of skull with other and unspecified intracranial hemorrhage, with brief [less than one hour] loss of consciousness
  • Closed fracture of vault of skull with other and unspecified intracranial hemorrhage, with concussion, unspecified
  • Closed fracture of vault of skull with other and unspecified intracranial hemorrhage, with loss of consciousness of unspecified duration

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