Glycogen storage disease type IX: High variability in clinical phenotype.

Glycogen storage disease type IX: High variability in clinical phenotype. Research Abstract Details 

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Glycogen storage disease type IX: High variability in clinical phenotype. Abstract Text:

Nicholas James Beauchamp,Ann Dalton,Uma Ramaswami,Harri Niinikoski,Karine Mention,Patricio Kenny,Kaija-Leena Kolho,Julian Raiman,John Walter,Eileen Treacy,Stuart Tanner,Mark Sharrard,

Glycogen storage disease type IX (GSD type IX) results from a deficiency of hepatic phosphorylase kinase activity. The phosphorylase kinase holoenzyme is made up of four copies of each of four subunits (alpha, beta, gamma and delta). The liver isoforms of the alpha-, beta- and gamma-subunits are encoded by PHKA2, PHKB and PHKG2, respectively. Mutation within these genes has been shown to result in GSD type IX. The diagnosis of GSD type IX is complicated by the spectrum of clinical symptoms, variation in tissue specificity and severity, and its inheritance, either X-linked or autosomal recessive. We investigated 15 patients from 12 families with suspected GSD type IX. Accurate diagnosis had been hampered by enzymology not being diagnostic in five cases. Clinical symptoms included combinations of hypoglycaemia, hepatosplenomegaly, short stature, hepatopathy, weakness, fatigue and motor delay. Biochemical findings included elevated lactate, urate and lipids. We characterised causative mutations in the PHKA2 gene in ten patients from eight families, in PHKG2 in two unrelated patients and in the PHKB gene in three patients from two families. Seven novel mutations were identified in PHKA2 (p.I337X, p.P498L, p.P869R, p.Y116_T120dup, p.R1070del, p.R916W and p.M113I), two in PHKG2 (p.L144P and p.H48QfsX5) and two in PHKB (p.Y419X and c.2336+965A>C). There was a severe phenotype in patients with PHKG2 mutations, a mild phenotype with patients PHKB mutations and a broad spectrum associated with PHKA2 mutations. Molecular analysis allows accurate diagnosis where enzymology is uninformative and identifies the pattern of inheritance permitting counselling and family studies.

Glycogen storage disease type IX: High variability in clinical phenotype. Publishing Authors By Initials

NJ Beauchamp,A Dalton,U Ramaswami,H Niinikoski,K Mention,P Kenny,KL Kolho,J Raiman,J Walter,E Treacy,S Tanner,M Sharrard,

For similar biochemical phenomena, metabolism, and nutrition: biochemical phenomena: sequence homology: sequence homology, amino acid research abstracts see: biochemical phenomena, metabolism, and nutrition: biochemical phenomena: sequence homology: sequence homology, amino acid research

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Glycogen storage disease type IX: High variability in clinical phenotype. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Molecular genetics and metabolism

VOLUME: 92

Page Numbers: 88-99

Journal Abbreviation: Mol. Genet. Metab.

ISSN: 1096-7192

DAY: 3

MONTH: 08

YEAR: 2007

Glycogen storage disease type IX: High variability in clinical phenotype. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 9805456

Glycogen storage disease type IX: High variability in clinical phenotype. Keywords Mesh Terms:

KEYWORDS: Sequence Homology, Amino Acid

MESH TERMS: genetics

Chemical & Substance for Abstract: Glycogen storage disease type IX: High variability in clinical phenotype. Information

Substance Name: Phosphorylase Kinase

Registry Number: EC 2.7.1.19

Grant and Affiliation Information for Glycogen storage disease type IX: High variability in clinical phenotype.

AFFILIATION: Academic Unit of Child Health, University of Sheffield, Stephenson Wing, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, and Department of Paediatrics, Addenbrook's Hospital, Cambridge, UK. n.j.beauchamp@sheffield.ac.uk

Country: United States

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MEDLINETA: Mol Genet Metab

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