Catalog

Glycerol kinase deficiency - contiguous gene syndrome

No MMS code

Link to WHO Definition

Glycerol kinase deficiency - contiguous gene syndrome – http://id.who.int/icd/entity/833383989

This is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. This diagnosis is with a syndrome caused by abnormalities of 2 or more genes that are located next to each other on a chromosome.