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November 12, 1982

Metabolic Diseases in Pediatric Practice

Author Affiliations

Oregon Health Sciences University Portland

JAMA. 1982;248(18):2350. doi:10.1001/jama.1982.03330180096060

This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables.


Dr Ampola has written a concise text on pediatric metabolic disorders that should prove attractive to medical students, residents, and the practicing physician caring for children. The text, while not comprehensive, covers such areas as amino acid, organic acid, and purine-pyrimidine disorders, the hyperammonemias, carbohydrate and lipid disorders, lysosomal storage diseases, and defects in electrolyte, mineral, and water metabolism.

The first of two excellent summary tables, 65 pages in length, allows the reader to scan each disorder, its incidence, the basic defect and inheritance, clinical features, blood and urine abnormalities, and therapy. The second, in the appendix, categorizes the major clinical presentation of the more common neonatal metabolic diseases. The body of the text itself presents well-organized, up-to-date information on the basic defect, clinical features, diagnosis, and treatment of each disorder, including whether or not prenatal diagnosis is feasible. Biochemical pathways are diagramed in a simple, straightforward way with only