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Genetic and Clinical Characterization of Complex Glycerol Kinase Deficiency in Two Male Siblings: A Case Report

1 Feb 2025

Abstract excerpt

Complex glycerol kinase deficiency (CGKD), also known as Xp21 contiguous gene deletion syndrome, is a rare X-linked recessive disorder resulting from partial deletion of the Xp21.3 chromosomal region. CGKD encompasses several loci, including glycerol kinase ( GK ), Duchenne muscular dystrophy ( DMD ), X-linked adrenal hypoplasia congenita ( NR0B1 ), and intellectual developmental disorder ( IL1RAPL1 ). We present...

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PMID: 40171039
DOI: 10.1177/11795514251317419

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