Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: Significance of increased n-acetyl-s-(2-carboxypropyl)cysteine excretion

Journal of Medical Genetics

Volumn 52, Issue 10, 2015, Pages 691-698

  Yamada, Kenichiro ^a   Aiba, Kaori ^b   Kitaura, Yasuyuki ^c   Kondo, Yusuke ^c   Nomura, Noriko ^a   Nakamura, Yuji ^b   Fukushi, Daisuke ^a   Murayama, Kei ^d   Shimomura, Yoshiharu ^c   Pitt, James ^e   Yamaguchi, Seiji ^f   Yokochi, Kenji ^g   Wakamatsu, Nobuaki ^a  

^a INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^b TOYOHASHI MUNICIPAL HOSPITAL   (Japan)

^c NAGOYA UNIVERSITY   (Japan)

^d CHIBA CHILDREN'S HOSPITAL   (Japan)

^e MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^f SHIMANE UNIVERSITY   (Japan)

^g SEIREI MIKATAHARA GENERAL HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCYSTEINE DERIVATIVE; COENZYME A; CROTONYL COENZYME A; ENOYL COENZYME A HYDRATASE; METHACRYLYL COENZYME A; N ACETYL S (2 CARBOXYPROPYL)CYSTEINE; UNCLASSIFIED DRUG; ACETYLCYSTEINE; ACYL COENZYME A; CROTONYL-COENZYME A; N-ACETYL-S-(2-CARBOXYPROPYL)CYSTEINE; TIGLYL-COENZYME A; VALINE;

ARTICLE; BIOCHEMICAL ANALYSIS; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; ECHS1 GENE; ENOYL COENZYME A HYDRATASE DEFICIENCY; ENZYME MECHANISM; ENZYME SPECIFICITY; EXOME; FATTY ACID OXIDATION; FEMALE; GENE; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; METABOLIC DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; URINARY EXCRETION; ANALOGS AND DERIVATIVES; DEFICIENCY; ENZYMOLOGY; INBORN ERROR OF METABOLISM; JAPAN; METABOLISM; MUTATION; PATHOPHYSIOLOGY; URINE;

ACETYLCYSTEINE; ACYL COENZYME A; CHILD; CHILD, PRESCHOOL; ENOYL-COA HYDRATASE; FEMALE; HUMANS; JAPAN; MALE; METABOLIC NETWORKS AND PATHWAYS; METABOLISM, INBORN ERRORS; MUTATION; VALINE;

EID: 84945437851     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103231     Document Type: Article

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