Literature DB >> 2303074

The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.

P J Willems1, W J Gerver, R Berger, J Fernandes.   

Abstract

We report a longitudinal study of 41 patients with liver glycogenosis due to phosphorylase kinase deficiency. In their youth, patients displayed hepatomegaly (92%), growth retardation (68%), delayed motor development (52%), hypercholesterolaemia (76%), hypertriglyceridaemia (70%), elevation of glutamate pyruvate transaminase (56%) and fasting hyperketosis (44%). With age, these clinical and biochemical abnormalities gradually disappeared and most adult patients were asymptomatic.

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Year:  1990        PMID： 2303074     DOI： 10.1007/bf02106291

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  21 in total

1.  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.

Authors:  B Lederer; F Van Hoof; G Van den Berghe; H Hers
Journal:  Biochem J       Date:  1975-04       Impact factor: 3.857

2.  Ketosis in hepatic glycogenosis.

Authors:  J Fernandes; N A Pikaar
Journal:  Arch Dis Child       Date:  1972-02       Impact factor: 3.791

3.  Hepatic phosphorylase deficiency. Its differentiation from other hepatic glycogenoses.

Authors:  J Fernandes; J F Koster; W F Grose; N Sorgedrager
Journal:  Arch Dis Child       Date:  1974-03       Impact factor: 3.791

4.  Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation.

Authors:  B R Migeon; F Huijing
Journal:  Am J Hum Genet       Date:  1974-05       Impact factor: 11.025

5.  Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency.

Authors:  R N Schimke; R M Zakheim; R C Corder; G Hug
Journal:  J Pediatr       Date:  1973-12       Impact factor: 4.406

6.  Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency.

Authors:  K Goji; Y Morishita; S Kodama; T Takahashi; T Matsuo
Journal:  Eur J Pediatr       Date:  1985-01       Impact factor: 3.183

7.  The autosomal form of phosphorylase kinase deficiency in man: reduced activity of the muscle enzyme.

Authors:  B Lederer; G van de Werve; T de Barsy; H G Hers
Journal:  Biochem Biophys Res Commun       Date:  1980-01-15       Impact factor: 3.575

8.  Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys.

Authors:  L R Garibaldi; C Borrone; I de Martini; E Battistini
Journal:  Helv Paediatr Acta       Date:  1978-11

9.  Nocturnal gastric drip feeding in glucose-6-phosphatase deficient children.

Authors:  J Fernandes; H Jansen; T C Jansen
Journal:  Pediatr Res       Date:  1979-04       Impact factor: 3.756

10.  Phosphorylase kinase of the liver: deficiency in a girl with increased hepatic glycogen.

Authors:  G Hug; W K Schubert; G Chuck
Journal:  Science       Date:  1966-09-23       Impact factor: 47.728
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  20 in total

1.  cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.

Authors:  J J Davidson; T Ozçelik; C Hamacher; P J Willems; U Francke; M W Kilimann
Journal:  Proc Natl Acad Sci U S A       Date:  1992-03-15       Impact factor: 11.205

Review 2.  Phosphorylase b kinase deficiency in man: a review.

Authors:  I E Van den Berg; R Berger
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 3.  Genetic deficiencies of the glycogen phosphorylase system.

Authors:  J Hendrickx; P J Willems
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

4.  Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes.

Authors:  C Fiçicioğlu; A Aydin; S Mikla; H Cam; Y Shin
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

5.  Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.

Authors:  Samuela A Fernandes; Gabrielle E Cooper; Rebecca Anne Gibson; Priya S Kishnani
Journal:  Mol Genet Metab       Date:  2020-10-10       Impact factor: 4.797

6.  Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.

Authors:  Deeksha S Bali; Jennifer L Goldstein; Keri Fredrickson; Stephanie Austin; Surekha Pendyal; Catherine Rehder; Priya S Kishnani
Journal:  JIMD Rep       Date:  2017-03-12

7.  Uncooked cornstarch treatment for hepatic phosphorylase kinase deficiency.

Authors:  A Nakai; Y Shigematsu; T Takano; Y Kikawa; M Sudo
Journal:  Eur J Pediatr       Date:  1994-08       Impact factor: 3.183

8.  Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

Authors:  Deeksha S Bali; Jennifer L Goldstein; Keri Fredrickson; Catherine Rehder; Anne Boney; Stephanie Austin; David A Weinstein; Richard Lutz; Avihu Boneh; Priya S Kishnani
Journal:  Mol Genet Metab       Date:  2013-12-19       Impact factor: 4.797

9.  Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1.

Authors:  H Hirono; Y Shoji; T Takahashi; W Sato; E Takeda; T Nishijo; Y Kuroda; T Nishigaki; K Inui; G Takada
Journal:  J Inherit Metab Dis       Date:  1998-12       Impact factor: 4.982

10.  Characteristic growth pattern in male X-linked phosphorylase-b kinase deficiency (GSD IX).

Authors:  H M Schippers; G P A Smit; J P Rake; G Visser
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
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