Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Ostergaard, E ^a   Birk Moller, L ^b   Serap Kalkanoglu Sivri, H ^c   Dursun, A ^c   Kibaek, M ^d   Thelle, T ^e   Christensen, E ^a   Duno, M ^a   Wibrand, F ^a  

^a Rigshospitalet   (Denmark)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

^c HACETTEPE UNIVERSITY   (Turkey)

^d ODENSE UNIVERSITY HOSPITAL   (Denmark)

^e VIBORG HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL PROTEIN; PYRUVATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE E1ALPHA SUBUNIT;

ADOLESCENT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHILD; CLASSIFICATION; ENZYMOLOGY; FEMALE; GENE DELETION; GENETICS; HUMAN; INFANT; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; SEQUENCE DELETION;

EID: 84881001999     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1179-8     Document Type: Article

References (11)

1. Brown RM, Head RA, Boubriak II, et al (2004) Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. Hum Genet 115 :123-127. doi:10.1007/s00439-004-1124-8 (Pubitemid 39010926)
2. Cameron JM, Levandovskiy V, Mackay N, et al (2004) Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit. Am J Med Genet A 131A:59-66. doi:10.1002/ajmg.a.30287 (Pubitemid 39434795)
3. Head RA, Brown RM, Zolkipli Z, et al (2005) Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. Ann Neurol 58:234-241. doi:10.1002/ana.20550 (Pubitemid 41098881)
4. Klement P, Nijtmans LG, Van den Bogert C, et al (1995) Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin. Anal Biochem 231 :218-224. doi:10.1006/abio.1995.1523
5. Lissens W, De Meirleir L, Seneca S, et al (2000) Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat 15:209-219. doi:10.1002/(SICI)1098-1004(200003)15:3〈209::AID-HUMU1〉3.0.CO;2-K (Pubitemid 30132155)
6. Liu TC, Kim H, Arizmendi C, et al (1993) Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. Proc Natl Acad Sci U S A 90:5186-5190. doi:10.1073/pnas.90.11.5186 (Pubitemid 23183002)
7. Maj MC, MacKay N, Levandovskiy V, et al (2005) Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. J Clin Endocrinol Metab 90:4101-4107. doi:10.1210/jc.2005-0123 (Pubitemid 41058179)
8. Ofenstein JP, Kiechle FL, Dandurand DM, et al (1993) Lactate oxidation for the detection of mitochondrial dysfunction in human skin fibroblasts. Anal Biochem 210 :332-336. doi:10.1006/abio.1993.1204 (Pubitemid 23171026)
9. Robinson BH (2001) Lactic acidemia: disorders of pyruvate carboxylase and pyruvate dehydrogenase. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2275-2296.
10. Sperl W, Trijbels JM, Ruitenbeek W, et al (1993) Measurement of totally activated pyruvate dehydrogenase complex activity in human muscle: evaluation of a useful assay. Enzyme Protein 47:37-46 (Pubitemid 23298014)
11. Srere PA (1969) Citrate synthase. Methods Enzymol 13:3-11. doi:10.1016/0076-6879(69)13005-0