Zellweger syndrome and secondary mitochondrial myopathy

European Journal of Pediatrics

Volumn 174, Issue 4, 2015, Pages 557-563

  Salpietro, Vincenzo ^a,b   Phadke, Rahul ^c   Saggar, Anand ^d,e   Hargreaves, Iain P ^c   Yates, Robert ^e,f   Fokoloros, Christos ^a   Mankad, Kshitij ^e,f   Hertecant, Jozef ^g   Ruggieri, Martino ^h   McCormick, David ^e,i   Kinali, Maria ^a,e  

^a CHELSEA AND WESTMINSTER HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY OF MESSINA   (Italy)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^d ST GEORGE'S UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e Portland Hospital for Women and Children   (United Kingdom)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^h UNIVERSITY OF CATANIA   (Italy)

ⁱ KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

Disorders; Metabolic myopathy; Mitochondrial dysfunction; Peroxisomal biogenesis; PEX 12; PEX16; Zellweger syndrome

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; CITRATE SYNTHASE; LACTIC ACID; MEMBRANE PROTEIN; MYOSIN HEAVY CHAIN; PEROXIN; PEROXIN 12; PEROXIN 16; PEX12 PROTEIN; PEX16 PROTEIN; PHYTANIC ACID; PIPECOLIC ACID; UNCLASSIFIED DRUG;

ARAB; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CORPUS CALLOSUM; DNA DETERMINATION; ECHOCARDIOGRAPHY; EXON; FEMALE; GENE MUTATION; HEART FAILURE; HEART VENTRICLE SEPTUM DEFECT; HIGH ARCHED PALATE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOREFLEXIA; INFANT; JAUNDICE; LACTATE BLOOD LEVEL; LIVER BIOPSY; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL RESPIRATION; MUSCLE BIOPSY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; SYSTEMATIC REVIEW; TACHYCARDIA; TACHYPNEA; WHITE MATTER; ZELLWEGER SYNDROME; COMPLICATION; GENETICS; HOMOZYGOTE; MITOCHONDRIAL MYOPATHIES; MITOCHONDRION; MUTATION; PATHOLOGY;

FEMALE; HOMOZYGOTE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MITOCHONDRIA; MITOCHONDRIAL MYOPATHIES; MUTATION; ZELLWEGER SYNDROME;

EID: 84925467256     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-014-2431-2     Document Type: Article

References (19)

1. Ahn JK, Lev D, Leshinsky-Silver E, Ginzberg M, Lerman-Sagie T (2003) A new autosomal recessive syndrome with Zellweger-like manifestations. Am J Med Genet A 119A:352–355
2. Baumgart E, Vanhorebeek I, Grabenbauer M, Borgers M, Declercq PE, Fahimi HD, Baes M (2001) Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knock out mouse). Am J Pathol 159:1477–1494
3. Baumgartner MR, Verhoeven NM, Jakobs C, Roels F, Espeel M, Martinez M, Rabier D, Wanders RJ, Saudubray JM (1998) Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease. Neurology 51:1427–1432
4. Chang CC, Gould SJ (1998) Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders. Am J Hum Genet 63(5):1294–1306
5. Fujiki Y, Yagita Y, Matsuzaki T (2012) Peroxisome biogenesis disorders: molecular basis for impaired peroxisomal membrane assembly in metabolic functions and biogenesis of peroxisomes in health and disease. BiochimBiophysActa 1822:1337–1342
6. Goldfischer S, Moore CL, Johnson AB, Spiro AJ, Valsamis MP, Wisniewski HK, Ritch RH, Norton WT, Gartner LM, RapinI (1973) Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 182:62–4.11
7. Gould SJ, Raymond GV, Valle D (2001) The peroxisome biogenesis disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. 8th 255 ed. McGraw-Hill, New York, pp 3181–218
8. Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI (2007) Mitochondrial disease: a practical approach for primary care physicians. Pediatrics 120:1326–1333
9. Hargreaves IP, Duncan AJ, Wu L, Agrawal A, Land JM, Heales SJ (2007) Inhibition of mitochondrial complex IV leads to secondary loss of complex II–III activity: Implications for the pathogenesis and treatment of mitochondrial encephalomyopathies. Mitochondrion 7:284–287
10. Heales SJ, Bolanos JP, Brand MP, Clark JB, Land JM (1996) Mitochondrial damage: an important feature in a number of inborn errors of metabolism. J Inher Metab Dis 19:140–142
11. Hirano M, Angelini C, Montagna P, Hays AP, Tanji K, Mitsumoto H, Gordon PH, Naini AB, DiMauro S, Rowland LP (2008) Amyotrophic lateral sclerosis with ragged-red fibers. Arch Neurol 65:403–406
12. Katsetos CD, Koutzaki S, Melvin JJ (2013) Mitochondrial dysfunction in neuromuscular disorders. SeminPediatrNeurol 20:202–215
13. Müller-Höcker J, Walther JU, Bise K, Pongratz D, Hübner G (1984) Mitochondrial myopathy with loosely coupled oxidative phosphorylation in a case of Zellweger syndrome. A cytochemical-ultrastructural study. Virchows Arch B Cell PatholInclMolPathol 45:25–38.12
14. Okun JC, Horster F, Farkas LM, Feyh P, Hinz A, Sauer S, Hoffmann GF, Unsicker K, Mayatepek E, Kolker S (2002) Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem 277:14674–14680
15. Sarnat HB, Machin G, Darwish HZ, Rubin SZ (1983) Mitochondrial myopathy of cerebro-hepatorenal (Zellweger) syndrome. Can J Neurol Sci 10:170–177
16. Schonfeld P, Reiser G (2006) Rotenone-like action of the branched chain phytanic acid induces oxidative stress in mitochondria. J Biol Chem 281:7136–7142
17. Shaheen R, Al-Dirbashi OY, Al-Hassnan ZN, Al-Owain M, Makhsheed N, Basheeri F, Seidahmed MZ, Salih MA, Faqih E, Zaidan H, Al-Sayed M, Rahbeeni Z, Al-Sheddi T, Hashem M, Kurdi W, Shimozawa N, Alkuraya FS (2011) Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs. Clin Genet 79(1):60–70
18. Steinberg SJ, Raymond GV, Braverman NE, Moser AB. Peroxisome biogenesis disorders, Zellweger syndrome spectrum. Updated 2012 May 10 GeneReviews: available at http://www.ncbi.nlm.nih.gov/books/NBK1448/
19. Wanders RJ, Waterham HR (2005) Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet 67(2):107–133