Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene

Human Genetics

Volumn 102, Issue 4, 1998, Pages 423-429

  Burwinkel, Barbara ^a   Amat, Lluis ^b   Gray, R George F ^c   Matsuo, Nobutake ^d   Muroya, Koji ^d   Narisawa, Kuniaki ^e   Sokol, Ronald J ^f   Vilaseca, M A ^b   Kilimann, Manfred W ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^d KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f Children's Hospital Colorado   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN; PHOSPHORYLASE KINASE; TRINUCLEOTIDE;

ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME SUBUNIT; GENE CLUSTER; GENE DELETION; GENE MUTATION; GLYCOGEN STORAGE DISEASE; HUMAN; HUMAN CELL; KIDNEY TUBULE ACIDOSIS; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; SENSORY NEUROPATHY; SPEECH DISORDER; X CHROMOSOME LINKAGE;

EID: 0031921317     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050715     Document Type: Article

References (29)

1. Burwinkel B, Shin YS, Bakker HD, Deutsch J, Lozano MJ, Maire I, Kilimann MW (1996) Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). Hum Mol Genet 5:653-658
2. Burwinkel B, Maichele AJ, Aagenaes Ö, Bakker HD, Lerner A, Shin YS, Strachan JA, Kilimann MW (1997a) 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
3. Burwinkel B, Moses SW, Kilimann MW (1997b) 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
4. 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
5. Chen YT, Burchell A (1995) Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, vol 1, 7th edn. McGraw-Hill, New York, pp 935-965
6. Cohen J, Friedman M (1979) Renal tubular acidosis associated with type 3 glycogenosis. Acta Paediatr Scand 68:779-782
7. Cooper DN, Krawczak M (1993) Human gene mutation. BIOS Scientific, Oxford, pp 176-197
8. Eishi Y, Takemura T, Sone R, Yamamura H, Narisawa K, Ichinohasama R, Tanaka M, Hatakeyama S (1985) Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease. Hum Pathol 16:193-197
9. Elleder M, Shin YS, Zuntova A, Vojtovic P, Chalupccky V (1993) Fatal infantile cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase. Virchows Archiv A Pathol Anat Histopathol 423:303-307
10. Hendrickx J, Coucke P, Hors-Cayla M-C, Smit GPA, Shin YS, Deutsch J, Smeitink J, Berger R, Lee P, Fernandes J, Willems PJ (1994) Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver α-subunit of phosphorylase kinase (PHKA2). Genomics 21:620-625
11. Hendrickx J, Coucke P, Dams E, Lee P, Odievre M, Corbeel L, Fernandes JF, Willems PJ (1995) Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. Hum Mol Genet 4:77-83
12. Hendrickx J, Dams E, Coucke P, Lee P, Fernandes J, Willems PJ (1996) X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. Hum Mol Genet 5:649-652
13. Hirono H, Hayasaka K, Sato W, Takahashi T, Takada G (1995) Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency. Biochem Mol Biol Int 36:505-511
14. Hug G, Schubert WK, Shwachman H (1965) Imbalance of liver phosphorylase and accumulation of hepatic glycogen with progressive disease of the brain. J Pediatr 67:741-751
15. Hug G, Schubert WK, Chuck G, Garancis JC (1967) Liver phosphorylase - deactivation in a child with progressive brain disease, increased hepatic glycogen and increased urinary catecholamines. Am J Med 42:139-145
16. Kikuchi M, Aikawa J, Ishizawa S, Igarashi Y, Narisawa K, Tada K (1988) Enzymatic analysis in lymphocytes and erythrocytes from six patients with different phenotypes of phosphorylase kinase deficiency. J Inherit Metab Dis 11:315-318
17. Kilimann MW, Zander NF, Kuhn CC, Crabb JW, Meyer HE, Heilmeyer Jr LMG (1988) The α and β subunits of phosphorylase kinase are homologous: cDNA cloning and primary structure of the β subunit. Proc Natl Acad Sci USA 85:9381-9385
18. Kilimann MW (1997) Glycogen storage disease due to phosphorylase kinase deficiency. In: Swallow D, Edwards Y (eds) Protein dysfunction in human genetic disease. BIOS Scientific, Oxford, pp 57-75
19. 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
20. Maire E, Baussan C, Moatti N, Mathieu M, Lemonnier A (1991) Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience. Clin Biochem 24:169-178
21. Matsuo N, Tsuchiya Y, Cho H, Nagai T, Tsuji A (1986) Proximal renal tubular acidosis in a child with type 1 glycogen storage disease. Acta Paediatr Scand 75:332-335
22. Nagai T, Matsuo N, Tsuchiya Y, Cho H, Hasegawa Y, Igarashi Y (1988) Proximal renal tubular acidosis associated with glycogen storage disease, type 9. Acta Paediatr Scand 77:460-463
23. Newsholme P, Angelos KL, Walsh DA (1992) High and intermediate affinity calmodulin binding domains of the α and β subunits of phosphorylase kinase and their potential role in phosphorylation-dependent activation of the holoenzyme. J Biol Chem 267:810-818
24. Sanjad SA, Kaddoura RE, Nazer HM, Akhtar M, Sakati NA (1993) Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency. Am J Dis Child 147:957-959.
25. Schneider A, Davidson JJ, Wullrich A, Kilimann MW (1993) Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the a subunit muscle isoform. Nat Genet 5:381-385
26. Servidei S, Metlay LA, Chodosh J, DiMauro S (1988) Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency. J Pediatr 113:82-85
27. Van den Berg IET, Van Beurden EACM, Malingre HEM, Ploos van Amstel HK, Poll-The BT, Smeitink JAM, Lamers WH, Berger R (1995) X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase α subunit. Am J Hum Genet 56:381-387
28. Wehner M, Clemens PR, Engel AG, Kilimann MW (1994) Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the a subunit. Hum Mol Genet 3:1983-1987
29. Willems PJ, Gerver WJM, 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