Intermittent-relapsing pyruvate dehydrogenase complex deficiency: A case with clinical, biochemical, and neuroradiological reversibility

Developmental Medicine and Child Neurology

Volumn 54, Issue 5, 2012, Pages 472-476

  Giribaldi, Gaia ^a   Doria Lamba, Laura ^a   Biancheri, Roberta ^a   Severino, Mariasavina ^b   Rossi, Andrea ^b   Santorelli, Filippo M ^c   Schiaffino, Cristina ^a   Caruso, Ubaldo ^a   Piemonte, Fiorella ^d   Bruno, Claudio ^b  

^a UNIVERSITY OF GENOA   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

LACTIC ACID; PYRUVATE DEHYDROGENASE COMPLEX; THIAMINE;

ARTICLE; BASAL GANGLION; CASE REPORT; CHILD; DENTATE NUCLEUS; DRUG MEGADOSE; ENCEPHALOMYOPATHY; FALSE NEGATIVE RESULT; FEVER; GENE; HEMIZYGOSITY; HUMAN; INFERIOR OLIVE; MALE; METABOLIC DISORDER; MISSENSE MUTATION; NEUROIMAGING; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PDH1A GENE; PERIAQUEDUCTAL GRAY MATTER; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RELAPSE; THERAPY DELAY; VITAMIN SUPPLEMENTATION;

ALLELES; BRAIN; CHILD; DNA MUTATIONAL ANALYSIS; ECONOMICS; HEMIZYGOTE; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MUTATION, MISSENSE; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; RECURRENCE; THIAMINE;

EID: 84859490466     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2011.04151.x     Document Type: Article

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