A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic Aciduria

Journal of Child Neurology

Volumn 30, Issue 2, 2015, Pages 228-232

  Nogueira, Célia ^a   Meschini, Maria Chiara ^b   Nesti, Claudia ^b   Garcia, Paula ^c   Diogo, Luisa ^c   Valongo, Carla ^a   Costa, Ricardo ^d   Videira, Arnaldo ^e   Vilarinho, Laura ^a   Santorelli, Filippo M ^b  

^a NATIONAL INSTITUTE OF HEALTH   (Portugal)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^d Hospital Center Cova da Beira   (Portugal)

^e UNIVERSITY OF PORTO   (Portugal)

Author keywords

Encephalomyopathy; Methylmalonic aciduria; Mitochondrial DNA depletion; Succinate coenzyme A ligase; SUCLA2

Indexed keywords

5 AMINO 4 IMIDAZOLECARBOXAMIDE; ADENOSINE TRIPHOSPHATE; ALANINE; AMMONIA; CARNITINE; GENOMIC DNA; LACTIC ACID; METHYLMALONIC ACID; MITOCHONDRIAL DNA; PROLINE; PROTEIN; PROTEIN SUCLA2; PYRUVIC ACID; REACTIVE OXYGEN METABOLITE; RIBOFLAVIN; THIAMINE; UBIDECARENONE; UNCLASSIFIED DRUG; VITAMIN B COMPLEX; VITAMIN B9; SUCCINYL COENZYME A SYNTHETASE; SUCLA2 PROTEIN, HUMAN;

ARTICLE; BASAL GANGLION; BODY HEIGHT; BODY WEIGHT; BRAIN ATROPHY; CALORIC INTAKE; CASE REPORT; CHILD; CITRIC ACID CYCLE; CONSTIPATION; CONTROLLED STUDY; DISEASE SEVERITY; DYSTONIA; ELECTROPHORESIS; EVOKED BRAIN STEM AUDITORY RESPONSE; FACE DYSMORPHIA; GENE MUTATION; GENERALIZED DYSTONIA; HEAD CIRCUMFERENCE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERAMMONEMIA; HYPERLACTATEMIA; MALE; METHYLMALONIC ACIDURIA; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE ATROPHY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NOSE FEEDING; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PORTUGUESE (CITIZEN); PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; PROTEIN RESTRICTION; SKIN BIOPSY; SKIN FIBROBLAST; SUCLA2 GENE; URINARY EXCRETION; AMINO ACID METABOLISM, INBORN ERRORS; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

AMINO ACID METABOLISM, INBORN ERRORS; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MUTATION; SUCCINATE-COA LIGASES;

EID: 84927721688     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073814527158     Document Type: Article

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