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Metabolic Disorders

What Causes Metabolic Disorders

Metabolic disorders are genetic conditions passed on from parents to child. They usually occur when genetic mutation result in missing or dysfunctional enzymes that the body needs to perform certain functions.

  • 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