期刊
AMERICAN JOURNAL OF MEDICAL GENETICS
卷 101, 期 1, 页码 46-49出版社
WILEY-LISS
DOI: 10.1002/ajmg.1298
关键词
carbohydrate-deficient glycoprotein syndrome type Ia; congenital disorders of glycosylation; mental retardation; autosomal recessive; phosphomannomutase; cerebellar atrophy; PMM2; mutation
The congenital disorders of glycosylation (CDG) constitute a new group of recessively inherited metabolic disorders that are characterized biochemically by defective glycosylation of proteins. Several types have been identified. CDG-Ia, the most frequent type, is a multisystemic disorder affecting the nervous system and numerous organs including liver, kidney, heart, adipose tissue, bone, and genitalia. A phosphomannomutase (PMM) deficiency has been identified in CDG-Ia patients and numerous mutations in the PMM2 gene have been identified in patients with a PMM deficiency. We report on a French family with 3 affected sibs, with an unusual presentation of CDG-Ia, remarkable for 1) the neurological presentation of the disease, and 2) the dissociation between intermediate PMM activity in fibroblasts and a decreased PMM activity in leukocytes, This report shows that the diagnosis of CDG-Ia must be considered in patients with non-regressive early-onset encephalopathy with cerebellar atrophy, and that intermediate values of PMM activity in fibroblasts do not exclude the diagnosis of CDG-Ia, (C) 2001 Wiley-Liss, Inc.
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