Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Lamperti, C ^a   Salani, S ^b   Lucchiari, S ^b   Bordoni, A ^b   Ripolone, M ^b   Fagiolari, G ^b   Fruguglietti, M E ^b   Crugnola, V ^b   Colombo, C ^c   Cappellini, A ^c   Prelle, A ^b   Bresolin, N ^b   Comi, G P ^b   Moggio, M ^a,b  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c SAN GERARDO HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GBE1 PROTEIN, HUMAN; GLYCOGEN DEBRANCHING ENZYME;

ARTICLE; BRAIN; CASE REPORT; ENZYMOLOGY; FATALITY; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 4; HEART MUSCLE; HOMOZYGOTE; HUMAN; LIVER; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; SKELETAL MUSCLE; STOP CODON; TRANSMISSION ELECTRON MICROSCOPY;

BASE SEQUENCE; BRAIN; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE IV; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; LIVER; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCLE, SKELETAL; MYOCARDIUM;

EID: 84881007506     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1134-8     Document Type: Article

References (23)

1. Andersen DH (1956) Familial cirrhosis of the liver with storage of abnormal glycogen. Lab Invest 5: 11-20.
2. Assereto S, van Diggelen OP, Diogo L, et al (2007) Null mutations and lethal congenital form of glycogen storage disease type IV. Biochem Biophys Res Commun 361: 445-450. doi:10.1016/j.bbrc.2007.07.074. (Pubitemid 47187278)
3. Brown BI, Brown DH (1966) Lack of an alpha-1,4-glucan:alpha-1, 4-glucan 6-glycosyl transferase in a case of type IV glycogenosis. Proc Natl Acad Sci U S A 56: 725-729. doi:10.1073/pnas.56.2.725.
4. Bruno C, Servidei S, Shanske S, et al (1993) Glycogen branching enzyme deficiency in adult polyglucosan body disease. Ann Neurol 33: 88-93. doi:10.1002/ana.410330114. (Pubitemid 23009914)
5. Bruno C, DiRocco M, Lamba LD, et al (1999) A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. Neuromuscul Disord 9: 403-407. doi:10.1016/S0960-8966(99)00040-1. (Pubitemid 29454601)
6. Bruno C, van Diggelen OP, Cassandrini D, et al (2004) Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology 63: 1053-1058. (Pubitemid 39287914)
7. Burrow TA, Hopkin RJ, Bove KE, et al (2006). Non-lethal congenital hypotonia due to glycogen storage disease type IV. Am J Med Genet A 140A(8): 878-882. doi:10.1002/ajmg.a.31166.
8. DubowitzV (1985) Muscle Biopsy, a Practical Approach, 2nd edn. London: Baillière Tindall.
9. Giuffrè B, Parini R, Rizzuti T, et al (2004) Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings. J Inherit Metab Dis 27: 609-619. doi:10.1023/B:BOLI.0000042980. 45692.bb. (Pubitemid 39295102)
10. Janecke AR, Dertinger S, Ketelsen UP, et al (2004) Neonatal type IV glycogen storage disease associated with "null"mutations in glycogen branching enzyme 1. J Pediatr 145(5): 705-709. doi:10.1016/j.jpeds.2004.07.024. (Pubitemid 39440955)
11. Konstantinidou AE, Anninos H, Gyftodimou Y, et al (2006) Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis. Histopathology 48: 878-880. doi:10.1111/j.1365-2559.2006.02425.x. (Pubitemid 43800953)
12. Konstantinidou AE, Anninos H, Dertinger S, et al (2008) Placental involvement in glycogen storage disease type IV. Placenta 29: 378-381. doi:10.1016/j.placenta.2008.01.005.
13. Krisman CR (1962) A method for the colorimetric estimation of glycogen with iodine. Annal Biochem 4: 17-23. doi:10.1016/0003-2697(62)90014-3.
14. L'herminé-Coulomb A, Beuzen F, Bouvier R, et al (2005) Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family. Am J Med Genet A 139A(2): 118-122. doi:10.1002/ajmg.a.30945.
15. Maruyama K, Suzuki T, Koizumi T, et al (2004) Congenital form of glycogen storage disease type IV: a case report and a review of the literature. Pediatr Int 46: 474-477. doi:10.1111/j.1442-200x.2004.01916.x. (Pubitemid 39119166)
16. Minassian B (2001) Lafora's disease: towards a clinical pathologic, and molecular synthesis. Pediatr Neurol 25: 21-29. doi:10.1016/S0887-8994(00)00276- 9.
17. Moses SW, Parvari R (2002) The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med 2: 177-188. doi:10.2174/1566524024605815. (Pubitemid 34649839)
18. Nambu M, Kawabe K, Fukuda T, et al (2003) A neonatal form of glycogen storage disease type IV. Neurology 61: 392-394. (Pubitemid 36975974)
19. Nolte KW, Janecke AR, Vorgerd M, Weis J, Schroder JM (2008) Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene. Acta Neuropathol 116: 491-506. doi:10.1007/s00401-008-0417-8.
20. Raben N, Danon M, Lu N, et al (2001) Surprises of genetic engineering: a possible model of polyglucosan body disease. Neurology 56: 1739-1745. (Pubitemid 32574576)
21. Raju GP, Li HC, Bali DS, et al (2008) A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. J Child Neurol 23 : 349-352. doi:10.1177/0883073807309248. (Pubitemid 351247632)
22. Tay SK, Akman HO, Chung WK, et al (2004) Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord 14: 253-260. doi:10.1016/j.nmd.2003.12.006. (Pubitemid 38326846)
23. Thomas JA, Schlender KK, Larner JA (1968) Rapid filter paper assay for UDP glucose-glycogen glucotransferase, including an improved of UDP-14C-glucose. Anal Biochem 25(1): 486-489. doi:10.1016/0003-2697(68)90127-9.