Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

Article Abstract:

Carbohydrate-deficient-glycoprotein syndrome type 1A (CDG1), known also as Jaeken syndrome, is an autosomal recessive disorder in which defective glycosylation is the determining factor. The disease is linked to chromosome 16p13. Mutations in the PMM2 gene in CDG1 patients with a PMM deficiency (CDG1A) have been identified. In 56 CDG1 patients from 12 different geographic regions, screening has been carried out for mutations, and 23 different missense mutations were found as well as one single-base-pair deletion. Homozygosity for the alterations involving the R141H substitution, the most frequent disease allele, was not found and likely is not compatible with life. The R141H/D188G genotype is prevalent in Belgium and the Netherlands and associated with high mortality and a severe phenotype.

Netherlands, Belgium, Usage, Genetic aspects, Birth defects, Glycoproteins, Chromosome mapping, Genetic disorders

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A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic

Article Abstract:

Studies show that two specific mutations result in approximately 40% of alleles for glycogen-storage diseases. Through cloning a cDNA that encoded a putative glucose-6-phosphate translocase, researchers determined the mutations that resulted in disease alleles. These findings could indicate that glucose-6-phosphate and inorganic phosphate are transported by the same transporter in microsomes.

Mutation (Biology), Mutation, Glycogenosis, Glycogen storage diseases, Human chromosome abnormalities

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Phosphoserine aminotransferase deficiency: A novel disorder of the serine biosynthesis pathway

Article Abstract:

Two cases of phosphoserine aminotransferase deficiency are presented. This disorder of serine biosynthesis is identified in two siblings who showed low concentrations of serine and glycine in plasma and cerebrospinal fluid.

Science & research, Case studies, Amino acids, Amino acid synthesis, Clinical report, Phosphorus imbalance

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