Lipoamide dehydrogenase deficiency in ashkenazi jews: An insertion mutation in the mitochondrial leader sequence

Human Mutation

Volumn 10, Issue 3, 1997, Pages 256-257

  Elpeleg, Orly N ^a   Shaag, Avraham ^a   Glustein, Joseph Z ^a   Anikster, Yair ^a   Joseph, Adina ^a   Saada, Ann ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ANTISERUM; CARNITINE; DICHLOROACETIC ACID; DIHYDROLIPOAMIDE DEHYDROGENASE; DNA; PYRUVATE DECARBOXYLASE; PYRUVATE DEHYDROGENASE; RNA; SIGNAL PEPTIDE; THIAMINE; TYROSINE;

ARTICLE; CASE REPORT; CHILD; CODON; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOBLOTTING; JEW; MALE; MITOCHONDRION; MUTATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESPIRATORY CHAIN;

CHILD; CHILD, PRESCHOOL; DIHYDROLIPOAMIDE DEHYDROGENASE; DNA, MITOCHONDRIAL; HUMANS; JEWS; MALE; MITOCHONDRIA; MUTATION; PROTEIN SORTING SIGNALS;

EID: 0030769124     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:3<256::AID-HUMU16>3.0.CO;2-Z     Document Type: Article

References (7)

1. Elpeleg ON, Ruitenbeek W, Jakobs C, Barash V, Devivo D, Amir N (1995) Congenital lactic acidemia due to lipoamide dehydrogenase deficiency with favourable outcome. J Pediatr 126:72-74.
2. Johanning GL, Morris JI, Madhusudhan KT Samols D, Patel MS (1992) Characterization of the transcriptional regulatory region of the human dihydrolipoamide dehydrogenase gene. Proc Natl Acad Sci USA 89:10964-10968.
3. Liu TC, Kim H, Arizmendi C, Kitano A, Patel MS (1993) Identification of two missense mutations in a dihydrolipoamide dehydrogenase deficient patient. Proc Natl Acad Sci USA 90:5186-5190.
4. Pons G, Raefsky-Estrin C, Carothers DJ, Pepin RA, Javed AA, Jesse BW, Ganapathi MK, Samols D, Patel MS (1988) Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component of human α-ketoacid dehydrogenase complexes. Proc Natl Acad Sci USA 85:1422-1426.
5. Robinson BH (1995). Lactic acidemia (disorders of pyruvate carboxylase, pyruvate dehydrogenase). In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. New-York: McGraw-Hill, pp 1479-1499.
6. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular Cloning, 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
7. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463-5467.