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Metabolic Disorders

Screening and Tests for Metabolic Disorders

The process of diagnosing metabolic disorders will vary depending on the type of disorder.

  • Adrenoleukodystrophy (ALD)
  • Alkaptonuria
  • Cystinosis
  • DIDMOAD (Wolfram) syndrome
  • Glucose 6-phosphate-dehydrogenese deficiency
  • Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)
  • Inborn errors of urea synthesis
  • Kearns-Sayre syndrome
  • Maple syrup urine disease (MSUD)
  • McArdle’s disease
  • MELAS syndrome
  • Metabolic syndrome
  • Phenylketonuria (PKU)
  • Pyruvate carboxylase deficiency (hyperalaninemia)
  • Subacute necrotizing encephalopathy
  • Tay-Sachs disease (TSD)
  • Trimethylaminuria


 

Locations for Metabolic Disorders