The gene for glycogen-storage disease type 1b maps to chromosome 11q23

Article Abstract:

A locus marked by genetic markers that span a 3-cM region on chromosome 11q23 have been linked to glycogen-storage disease type 1 (GSD-1). GSD-1, also known as von Gierke disease, is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. Only GSD-1b patients, of patients with the four types of the autosomal recessive disorder, suffer infectious complications, the result of the heritable neutropenia and deficiencies in functions of neutrophils and monocytes. The GSD-1b patients have complications not easily blamed on deficiency of G6Pase. In all the subgroups other clinical signs and symptoms are the same and caused by abnormalities in metabolism of glucose-6-phosphate (G6P). More research will give insight into genetic links of G6P metabolism and neutrophil-monocyte dysfunction. Consanguineous families and one nonconsanguineous family of Bedouin, North African, Iranian Jewish, Israeli Arab, Pakistani and European origins were studied.

United States, Consanguinity

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Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping

Article Abstract:

Homozygosity mapping and two consanguineous affected Israeli-Arab families with five patients was used to link a molybdenum cofacor deficiency (MoCoD) gene to an 8-cM region on chromosome 6p21.3 between markers D6S1641 and D6S1672. MoCoD is a fatal disorder which is evident shortly after birth. There is mental retardation with profound neurological abnormalities, and there are severe seizures unresponsive to therapy. Existence of at least two complementation groups indicates genetic heterogeneity.

France, Physiological aspects, Molybdenum, Arabs

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Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI (Hers disease)

Article Abstract:

Mutations in the liver glycogen phosphorylase gene (PYGL) have been identified. Deficiency in the liver of glycogen phosphorylase brings on glycogen-storage disease type VI or Hers disease. It has now been shown that PYGL mutations cause Hers disease. Laboratory diagnosis of deficiencies of the liver phosphorylase system may be improved as a result.

Liver diseases

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