A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

Article Abstract:

The discovery of a new inherited metabolic disorder, dolichol kinase (DK1) deficiency that is responsible for the final step of the de novo biosynthesis of dolichol phosphate, is described. The results have shown that two homozygous mutations in the human homologue of the yeast DK1 caused a lethal phenotype, with death in early infancy.

Genetic aspects, Glycosylation, Biosynthesis, Metabolic diseases

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Mitochondrial phosphate-carrier deficiency: A novel disorder of oxidative phosphorylation

Article Abstract:

Two patients from same family who had a cardiac and muscular disease and a tissue-specific defect in the mitochondrial phosphate-carrier protein (PiC) are described. Complementation analysis in yeast is used to confirm the enzyme defect and this is the first report on patients with mitochondrial PiC deficiency.

Carrier proteins, Transport proteins, Mitochondrial diseases, Oxidative phosphorylation

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Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1

Article Abstract:

A study in which three patients with NF1 with clinical manifestations were investigated at the molecular level is presented. Results have opened avenues for improved diagnosis, and genetic counseling of individuals with mosaic NF1.

Diagnosis, Neurofibromatosis, Genetic counseling, Genetic counselling, Clinical report

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