Severe Phenotype of Phosphorylase Kinase-Deficient Liver Glycogenosis with Mutations in the PHKG2 Gene

Pediatric Research

Volumn 54, Issue 6, 2003, Pages 834-839

  Burwinkel, Barbara ^a   Rootwelt, Terje ^b   Kvittingen, Eli Anne ^b   Chakraborty, Pranesh K ^c   Kilimann, Manfred W ^a,d,e  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d RUHR UNIVERSITY BOCHUM   (Germany)

^e UPPSALA UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

LIVER ENZYME; PHOSPHORYLASE KINASE; PHOSPHORYLASE KINASE 2; STARCH; UNCLASSIFIED DRUG;

ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DOPPLER FLOWMETER; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE COUNT; FAMILY HISTORY; FEMALE; GASTROINTESTINAL ENDOSCOPY; GENE MUTATION; GENOTYPE; GLUCAGON RELEASE; GLYCOGEN ANALYSIS; GLYCOGEN STORAGE DISEASE; GROWTH RETARDATION; HEPATOMEGALY; HISTOLOGY; HUMAN; HYPOGLYCEMIA; KIDNEY FUNCTION TEST; LABORATORY TEST; LIVER CIRRHOSIS; LIVER DISEASE; LIVER FIBROSIS; LIVER FUNCTION TEST; LIVER HISTOLOGY; LIVER METABOLISM; MUTATIONAL ANALYSIS; PHENOTYPE; PHYSICAL EXAMINATION; PORTAL HYPERTENSION; PRIORITY JOURNAL; RECURRENT DISEASE; SCHOOL CHILD; STOMACH TUBE; TUBE FEEDING; ULTRASOUND; VITAMIN SUPPLEMENTATION;

FEMALE; GLUCAGON; GLYCOGEN STORAGE DISEASE; HOMOZYGOTE; HUMANS; HYPOGLYCEMIA; INFANT; LIVER; PHENOTYPE; PHOSPHORYLASE KINASE; POINT MUTATION; SEVERITY OF ILLNESS INDEX;

EID: 0345708450     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.PDR.0000088069.09275.10     Document Type: Article

References (24)

1. Chen YT 2001 Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, 8th ed. McGraw-Hill. New York, pp 1521-1551
2. Kilimann MW 1997 Glycogen storage disease due to phosphorylase kinase deficiency. In: Swallow DM, Edwards YH (eds) Protein Dysfunction and Human Genetic Disease. BIOS Scientific Publishers, Oxford, pp 57-75
3. Burwinkel B, Amat L, Gray RG, Matsuo N, Muroya K, Narisawa K, Sokol RJ, Vilaseca MA, Kilimann MW 1998 Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. Hum Genet 102:423-429
4. Hirono H, Shoji Y, Takahashi T, Sato W, Takeda E, Nishijo T, Kuroda Y, Nishigaki T, Inui K, Takada G 1998 Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1. J Inherit Metab Dis 21:846-852
5. Hendrickx J, Lee P, Keating JP, Carton D, Sadharwalla IB, Tuchman M, Baussan C, Willems PJ 1999 Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II. Am J Hum Genet 64:1541-1549
6. Rudolfova J, Slovackova R, Trbusek M, Peskova K, Stastna A, Kozak L 2001 Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis. J Inherit Metab Dis 24:85-87
7. Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS, Strachan JA, Kilimann MW 1997 Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase β subunit (PHKB). Hum Mol Genet 6:1109-1115
8. van den Berg IE, van Beurden EA, de Klerk JB, van Diggelen OP, Malingre HE, Boer MM, Berger R 1997 Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the β subunit (PHKB). Am J Hum Genet 61:539-546
9. Burwinkel B, Moses SW, Kilimann MW 1997 Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the β subunit gene (PHKB). Hum Genet 101:170-174
10. Maichele AJ, Burwinkel B, Maire I, Sövik O, Kilimann MW 1996 Mutations in the testis/liver isoform of the phosphorylase kinase γ subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Nat Genet 14:337-340
11. van Beurden EA, de Graaf M, Wendel U, Gitzelmann R, Berger R, van den Berg IE 1997 Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2). Biochem Biophys Res Commun 236:544-548
12. Burwinkel B, Shiomi S, Al-Zaben A, Kilimann MW 1998 Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Hum Mol Genet 7:149-154
13. Burwinkel B, Tanner MS, Kilimann MW 2000 Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R). J Med Genet 37:376-377
14. Willems PJ, Gerver WJ, Berger R, Fernandes J 1990 The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. Eur J Pediatr 149:268-271
15. Wolfsdorf JI 2002 Bones benefit from better biochemical control in type 1 glycogen storage disease. J Pediatr 141:308-310
16. Schwahn B, Rauch F, Wendel U, Schönau E 2002 Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control. J Pediatr 141:350-356
17. Sövik O, de Barsy T, Maehle B 1982 Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. Eur J Pediatr 139:210
18. Fernandes J, Huijing F, Van de Kamer JH 1969 A screening method for liver glycogen diseases. Arch Dis Child 44:311-317
19. Krebs EG 1966 Phosphorylase b kinase from rabbit muscle. Methods Enzymol 8:543-546
20. Tuchman M, Brown BI, Burke BA, Ulstrom RA 1986 Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency. Metabolism 35:627-633
21. Calalb MB, Fox DT, Hanks SK 1992 Molecular cloning and enzymatic analysis of the rat homolog of "PhK-γT", an isoform of phosphorylase kinase catalytic subunit. J Biol Chem 267:1455-1463
22. Rice NA, Nadeau OW, Yang Q, Carlson GM 2002 The calmodulin-binding domain of the catalytic γ subunit of phosphorylase kinase interacts with its inhibitory a subunit. J Biol Chem 277:14681-14687
23. Aikawa J, Ohura T, Iinuma K, Narisawa K 1997 Management of phosphorylase kinase deficiency-outcome and control of phosphorylase kinase deficiency. J Inherit Metab Dis 20:84
24. Hanks S, Quinn AM 1991 Protein kinase catalytic domain sequence database: identification of conserved features of primary structure and classification of family members. Methods Enzymol 200:38-62