Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency

Neuropediatrics

Volumn 32, Issue 6, 2001, Pages 295-298

  Naito, Etsuo ^a   Ito, M ^a   Yokota, I ^a   Saijo, T ^a   Ogawa, Y ^a   Shinahara, K ^a   Kuroda, Y ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

Congenital lactic acidemia; E1 ; Pyruvate dehydrogenase complex deficiency; Sodium dichloroacetate; Subunit; West syndrome

Indexed keywords

DICHLOROACETIC ACID; LACTIC ACID; PYRUVATE DEHYDROGENASE COMPLEX;

ARTICLE; CEREBROSPINAL FLUID ANALYSIS; CHILD; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; LACTATE BLOOD LEVEL; LACTIC ACIDEMIA; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SCREENING TEST; SEX DIFFERENCE; WEST SYNDROME;

ACIDOSIS, LACTIC; CROSS-SECTIONAL STUDIES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; SEX FACTORS; SPASMS, INFANTILE;

EID: 0035716925     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2001-20404     Document Type: Article

References (12)

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4. Mutation in the X-linked pyruvate dehydrogenase(E1) α subunit gene (PDHA) in patients with a pyruvate dehydrogenase complex deficiency
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7. Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia
8. Concomitant administration of sodium dichloroacetate and thiamine in West syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency
9. West's syndrome
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11. Pyruvate carboxylase deficiency. Acute exacerbation after ACTH treatment of infantile spasms
12. 1α deficiency: Case report