Prenatal Diagnosis of Disorders of Carbohydrate Metabolism
The consequences of the various genetically determined defects of carbohydrate metabolism differ markedly. For example, while glycogen storage disease type IX (GSD IX) is a “nuisance” not requiring treatment, GSD IIa is fatal and no treatment is available. The relative importance of prenatal diagnosis is noncontroversial for conditions at opposite ends of the clinical spectrum, and pregnancies at risk can be managed accordingly with the consensus of parents, health personnel, and public agencies. It is in situations such as GSD I, with patient survival but with unpredictable problems, in which judgments must be made based on individual circumstances of the patient, family, and community.
KeywordsPrenatal Diagnosis Lactic Acidosis Glycogen Storage Disease Pyruvate Carboxylase Glycogen Storage Disease Type
Unable to display preview. Download preview PDF.
- Bergren, W. R., Ng, W. G., and Donnell, G. N., 1973, Uridine diphosphate epimerasegalactose in human and other mammalian haemolysates, Biochim. Biophys. Acta 315:464.Google Scholar
- Besancon, A. M., Castelnau, L., Nicolesco, H., et al., 1985, Prenatal diagnosis of glycogenosis type II (Pompe’s disease) using chorionic villi biopsy, Clin. Genet. 27:749.Google Scholar
- Brown, D. H., and Illingworth, B., 1964, The role of oligo 1,4 1,4-glucan transferase and amylol,6-glucosidase in the debranching of glycogen, in: Control of Glycogen Metabolism (W. J. Whelan, ed.), p. 139, Little, Brown, Boston.Google Scholar
- Cori, G. T., 1958, Biochemical aspect of glycogen deposition disease, Mod. Probl. Paediatr. 3:344.Google Scholar
- Hug, G., 1978, Pre- and postnatal diagnosis of glycogen storage disease, in: Inherited Disorders of Carbohydrate Metabolism, Vol. 18, p. 327, MTP Press, Lancaster, England.Google Scholar
- Hug, G., 1985, Glycogen storage disease, in: Practice of Pediatrics, Vol. 30 (V. C. Kelley, ed.), p. 1, Harper and Row, New York.Google Scholar
- Hug, G., Harris, R., Hannon, D., et al., 1984a, Bone marrow transplant in glycogen storage disease type IIa, Clin Res 32:560A.Google Scholar
- Israels, S., Haworth, J. C., Dunn, H. G., et al., 1976, Lactic acidosis in childhood, in: Advances in Pediatrics, Vol. 22 (I. Schulman, ed.), p. 267, Yearbook Medical Publishers, Chicago.Google Scholar
- Johnson, W. G., Thomas, G. H., Miranda, A. F., et al., 1980, Congenital sialidosis: Biochemical studies: Clinical spectrum in four sibs; two successful prenatal diagnoses, Am. J. Hum. Genet. 32:43A.Google Scholar
- Putschar, W., 1932, Über angeborene Glykogenspeicherkrankheit des Herzens, Beitr. Pathol. Anat. Allg. Pathol. 90:222.Google Scholar
- Reitman, A. L., Varki, A., and Kornfeld, S., 1981, Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5′-diphosphate-N-acetylglucosamine:glycoprotein N-acet-ylglucosaminylphosphotransferase activity, J. Clin. Invest. 67:1574.PubMedCrossRefGoogle Scholar
- Schapira, F., Schapira, G., and Dreyfus, J. C., 1961/62, La lesion enzymatique de la fructosurie benigne. Enzymol. Biol. Clin. 1:170.Google Scholar