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Deficiency of phosphorylase kinase

MedGen UID:
713696
•Concept ID:
C1291390
•
Disease or Syndrome
Synonym: Deficiency of dephosphophosphorylase kinase
SNOMED CT: Deficiency of dephosphophosphorylase kinase (124329006); Deficiency of phosphorylase kinase (124329006)

Professional guidelines

PubMed

Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys.
Garibaldi LR, Borrone C, de Martini I, Battistini E
Helv Paediatr Acta 1978 Nov;33(4-5):435-41. PMID: 280544

Recent clinical studies

Diagnosis

The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI.
Grünert SC, Hannibal L, Spiekerkoetter U
Genes (Basel) 2021 Aug 3;12(8) doi: 10.3390/genes12081205. PMID: 34440378Free PMC Article
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
Burwinkel B, Hu B, Schroers A, Clemens PR, Moses SW, Shin YS, Pongratz D, Vorgerd M, Kilimann MW
Eur J Hum Genet 2003 Jul;11(7):516-26. doi: 10.1038/sj.ejhg.5200996. PMID: 12825073

Clinical prediction guides

Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency.
Lederer B, Van Hoof F, Van den Berghe G, Hers H
Biochem J 1975 Apr;147(1):23-35. doi: 10.1042/bj1470023. PMID: 168880Free PMC Article

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