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Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.

Orphanet journal of rare diseases - 20 Dec 2024

Geramizadeh Bita, Ezgu Fatih, Beyzaei Zahra

Abstract excerpt

Glycogen storage disorders (GSD) GSD-IX are characterized by deficiencies in muscular and/or hepatic phosphorylase enzymes. GSD type IX za is an X-linked disorder, while IXb and IXc are autosomal recessive disorders resulting from pathogenic variants in the genes encoding the Phosphorylase b Kinase regulatory subunit alpha (PHKA), beta (PHKB), and gamma (PHKG), respectively. Despite progress in understanding...

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Identifiers

PMID: 39707443
DOI: 10.1186/s13023-024-03488-0
PMCID: PMC11662818

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