Glycerol kinase deficiency - contiguous gene syndrome (Q98873): Difference between revisions

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Latest revision as of 15:31, 16 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_833383989
English	Glycerol kinase deficiency - contiguous gene syndrome	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.