Disorders of the Metabolism of Amino Acids and Related Compounds

  • Vivian E. Shih
  • Roseann Mandell
  • Aubrey Milunsky


The clinical manifestations of amino acid and organic acid metabolic disorders vary from few or no symptoms to serious and fatal diseases. Many of these disorders affect the nervous system, and mental retardation is a major finding. Others are associated with acute metabolic crisis. Simple diagnostic tests and effective treatment are available for many of these disorders and early intervention may prevent some of the clinical symptoms. The opportunities for prenatal diagnosis continue to increase in parallel with technological refinements (see Table I). Several recent books offer extensive reviews (Schulman and Simpson, 1981; Stanbury et al, 1983; V. C. Kelley et al., 1984; Nyhan, 1984).


Amniotic Fluid Prenatal Diagnosis Maple Syrup Urine Disease Maple Syrup Urine Disease Culture Skin Fibroblast 
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Copyright information

© Aubrey Milunsky 1986

Authors and Affiliations

  • Vivian E. Shih
    • 1
    • 2
  • Roseann Mandell
    • 1
  • Aubrey Milunsky
    • 3
  1. 1.Amino Acid Disorder Laboratory, Neurology Service and Children’s ServiceMassachusetts General HospitalBostonUSA
  2. 2.Department of NeurologyHarvard Medical SchoolBostonUSA
  3. 3.Departments of Pediatrics, Obstetrics-Gynecology, and Pathology, Center for Human GeneticsBoston University School of MedicineBostonUSA

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