Endocrinology Book

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Inborn Errors of Metabolism

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  1. Labs: Metabolic disorders tested on Newborn Screen
    1. See Newborn Screen
  2. Classification
    1. Inborn Errors of Small Molecule Metabolism
      1. Example: Galactosemia
    2. Lysosomal Storage Diseases
      1. Example: Gaucher's Disease
    3. Disorders of Energy Metabolism
      1. Example: Glycogen Storage Disease
    4. Other more rare classes of metabolism error
      1. Paroxysmal disorders
      2. Transport disorders
      3. Defects in purine and pyrimidine metabolism
      4. Receptor Defects
  3. Symptoms: Presentations of inborn errors of metabolism
    1. Cardiopulmonary changes
      1. Exercise intolerance
      2. Familal vascular disease
    2. Gastrointestinal changes
      1. Diarrhea
      2. Recurrent Emesis
      3. Pancreatitis
    3. Neurologic changes
      1. Muscle cramping or spasticity
      2. Peripheral Neuropathy
      3. Upward gaze paralysis
  4. Signs: Presentations of inborn errors of metabolism
    1. Cardiopulmonary changes
      1. Cardiomyopathy
    2. Neurologic changes
      1. Cerebrovascular Accident or stroke-like events
      2. Encephalopathy
      3. Cerebral calcifications
      4. Agenesis of corpus callosum
      5. Macrocephaly
    3. Eye changes
      1. Lenticular Cataracts
      2. Corneal Opacity
      3. Cherry red Macule
      4. Lens discoloration
      5. Optic atrophy
    4. Skin changes
      1. Angiokeratoma
      2. Non-specific dermatitis or hair changes
      3. Ichthyosis
      4. Inverted nipples
      5. Xanthomas
    5. Musculoskeletal changes
      1. Arthrosis
      2. Dystosis multiplex
      3. Osteoporosis
    6. Renal Changes
      1. Renal Calculi
      2. Renal Fanconi Syndrome
  5. References
    1. Raghuveer (2006) Am Fam Physician 73(11):1981

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