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  • Title: [Biochemical diagnosis of rare hereditary metabolic disorders. Experiences from a patient sample of the Innsbruck University Pediatric Clinic 1984-1987].
    Author: Sperl W.
    Journal: Padiatr Padol; 1990; 25(3):157-67. PubMed ID: 2381732.
    Abstract:
    The diagnosis of inherited metabolic diseases requires an intensive cooperation between the clinician, the clinical chemist and the biochemist to select patients for an adequate screening program, to avoid unnecessary expensive investigations and to achieve a final molecular diagnosis. Often a cooperation with specialized laboratories even in different countries is necessary. 29 patients with an inherited metabolic disorder have been evaluated at the Children's Hospital, University of Innsbruck, between 1984 and 1987. Seven patients with a disturbance in carbohydrate metabolism incl. pyruvate oxidation, nine with a defect in amino or organic acid metabolism, eleven patients with a lysosomal storage disorder, one patient with steroid-sulfatase deficiency and one with M. Wilson have been found. In nine of these 29 patients an organic aciduria was detected, four of them had lactic aciduria due to a mitochondrial defect of the oxidative energy metabolism. 21 children corresponded to a well-known classic phenotype, eight represented very rare or unique, not previously described clinical forms of a disease. In one third of the cases a cooperation with a foreign institute was necessary. The presentation of the most important biochemical investigations in children with inherited metabolic defects should give a survey of the diagnosis of such patients at a pediatric centre and should furthermore stimulate the development of a common diagnostic procedure program and the cooperation and coordination of the laboratories involved in the diagnosis of inherited metabolic disorders in Austria.
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