3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase

Journal of Inherited Metabolic Disease

Volumn 35, Issue 3, 2012, Pages 437-442

  Sass, Jörn Oliver ^a   Walter, Melanie ^a   Shield, Julian P H ^b   Atherton, Andrea M ^c   Garg, Uttam ^c   Scott, David ^c   Woods, C Geoffrey ^d   Smith, Laurie D ^c  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF BRISTOL   (United Kingdom)

^c Children0s Mercy Hospital and Clinics   (United States)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

3 AMINO 2 METHYLPROPIONIC ACID; 3 HYDROXY 2 METHYLPROPIONIC ACID; 3 HYDROXYISOBUTYRATE HYDROGENASE; AMOXICILLIN PLUS CLAVULANIC ACID; ANTIPYRETIC AGENT; BETA ALANINE; CARNITINE; GLUCOSE; METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE; OXIDOREDUCTASE; PARACETAMOL; UNCLASSIFIED DRUG;

3 HYDROXYISOBUTYRIC ACIDURIA; ALDH6A1 GENE; AMINO ACID URINE LEVEL; ARTICLE; AUTOPSY; BRAIN EDEMA; BRAIN HERNIA; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DEATH; DEVELOPMENTAL DISORDER; DIET SUPPLEMENTATION; DISSEMINATED INTRAVASCULAR CLOTTING; EXON; FACE DYSMORPHIA; FEMALE; FEVER; FIBROBLAST; GENE; GENE MUTATION; HEPATIC ENCEPHALOPATHY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOGLYCEMIA; INBORN ERROR OF METABOLISM; INFANT; KARYOTYPE 46,XY; MALE; METABOLIC ACIDOSIS; MICROCEPHALY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; PRESCHOOL CHILD; PROTEIN RESTRICTION; VOMITING;

AMINO ACID METABOLISM, INBORN ERRORS; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; HOMOZYGOTE; HUMANS; HYDROXYBUTYRATES; INFANT; INFANT, NEWBORN; MALE; METHYLMALONATE-SEMIALDEHYDE DEHYDROGENASE (ACYLATING); MUTATION; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA;

EID: 84863310415     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9381-x     Document Type: Article

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