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Literature DB >> 8236826

Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase.

M Elleder¹, Y S Shin, A Zuntová, P Vojtovic, V Chalupecký.

Abstract

We describe here a male infant with a rare form of glycogenosis caused by deficiency of heart specific phosphorylase b kinase. The disease phenotype was characterized by severe glycogenosis restricted to the heart muscle with secondary rapidly progressive hypertrophic cardiomyopathy causing death at the age of 47 days.

Entities: Disease Species

Mesh：

Substances：
Phosphorylase Kinase

Year: 1993 PMID： 8236826 DOI： 10.1007/bf01606895

Source DB: PubMed Journal: Virchows Arch A Pathol Anat Histopathol ISSN： 0174-7398

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. Purification of alpha and beta subunits of phosphorylase-b-kinase in human liver and cardiac muscle by affinity chromatography and immunodetection.

Authors: T Podskarbi; W Endres; Y S Shin
Journal: J Inherit Metab Dis Date: 1991 Impact factor: 4.982

3. The effect of heart and skeletal muscle troponin complexes and calmodulin on the Ca2+-dependent reactions of phosphorylase kinase isoenzymes.

Authors: K Yoshikawa; H Usui; M Imazu; M Takeda; S Ebashi
Journal: Eur J Biochem Date: 1983-11-02

4. Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance.

Authors: O Søvik; T deBarsy; B Maehle
Journal: Eur J Pediatr Date: 1982-11 Impact factor: 3.183

5. 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

6. A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase.

Authors: K Mizuta; E Hashimoto; A Tsutou; Y Eishi; T Takemura; K Narisawa; H Yamamura
Journal: Biochem Biophys Res Commun Date: 1984-03-15 Impact factor: 3.575

7. Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency.

Authors: Y Ohtani; I Matsuda; T Iwamasa; H Tamari; Y Origuchi; T Miike
Journal: Neurology Date: 1982-08 Impact factor: 9.910

8. Liver findings in Niemann-Pick disease type C.

Authors: M Elleder; F Smíd; H Hyniová; J Cihula; J Zeman; M Macek
Journal: Histochem J Date: 1984-11

9. Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VI.

Authors: N Dahan; C Baussan; N Moatti; A Lemonnier
Journal: J Inherit Metab Dis Date: 1988 Impact factor: 4.982

10. Purification and partial characterization of bovine heart phosphorylase kinase.

Authors: S D Killilea; N M Ky
Journal: Arch Biochem Biophys Date: 1983-03 Impact factor: 4.013

5 in total

1. Fatal arthrogryposis with respiratory insufficiency: a possible case of muscle phosphorylase b-kinase deficiency.

Authors: Y S Shin; E Plöchl; T Podskarbi; W Muss; P Pilz; R Puttinger
Journal: J Inherit Metab Dis Date: 1994 Impact factor: 4.982

2. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.

Authors: Barbara Burwinkel; John W Scott; Christoph Bührer; Frank K H van Landeghem; Gerald F Cox; Callum J Wilson; D Grahame Hardie; Manfred W Kilimann
Journal: Am J Hum Genet Date: 2005-05-02 Impact factor: 11.025