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Term / Metabolic Disorders

There are thousands of metabolic disorders with symptoms that range from mild to devastating. They are difficult to diagnose because many of the symptoms mimic other diseases and often occur in combination. In general, metabolic disorders are inherited genetic defects that interfere with the body’s metabolism, or the process by which the body gets energy from food. Symptoms vary from syndrome to syndrome, but often include developmental delays, vision and hearing problems, loss of intellectual function, muscle weakness, seizures, abnormal movements, stunted growth, pain and shortened life span. It is not unusual for the affected child to have been misdiagnosed with cerebral palsy, autism or other conditions whose symptoms can be similar to metabolic disorders. One in every 4,000 children are affected by one of these disorders.

In some cases, dietary changes and vitamin supplements may help alleviate symptoms, but there is currently no cure for metabolic disorders. A successful bone marrow or stem cell transplant may help slow or halt the progression of certain syndromes, but early diagnosis is critical to prevent irreversible disease progression.

The most common metabolic disorders include:

  • Barth Syndrome
  • Central Pontine Myelinolysis
  • G6PD Deficiency
  • Lesch-Nyhan Syndrome
  • Trimethylaminuria
  • Lipid Storage Diseases (see Enzyme Deficiencies)
    • Fabry Disease
    • Farber’s Disease
    • Gaucher Disease
    • GM1 Gangliosidoses
    • GM2 Gangliosidoses
      • Krabbe Disease
      • Metachromatic Leukodystrophy (MLD)
      • Sandhoff Disease
      • Tay-Sachs Disease
    • Niemann-Pick Disease
  • Lysosomal Storage Diseases (see: Enzyme Deficiencies)
    • Mucolipidoses I-IV
    • Cholesteryl Ester Storage Disease (CESD)
    • Wolman’s Disease
  • Metabolic Myopathies (see: Enzyme Deficiencies)
    • Carnitine Deficiency
    • Carnitine Palmityl Transferase Deficiency
    • Cori (or Forbes) Disease
    • Lactate Dehydrogenase Deficiency
    • McArdle Disease
    • Myoadenylate Dehydrogenase Deficiency
    • Phosphoglycerate Kinase Deficiency
    • Pompe Disease (subject of the movie Extraordinary Measures)
    • Tarui Disease
  • Mucopolysaccharidoses (MPS) (see: Enzyme Deficiencies)
    • Hunter Syndrome
    • Hurler Syndrome
    • Hurler-Scheie
    • Sanfillipo Syndrome
    • Scheie
    • Maroteaux-Lamy Syndrome
    • Morquio Syndrome
    • Sly Syndrome
  • Glycogen Storage Diseases
    • Von Gierke’s Disease
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