D-bifunctional protein deficiency caused by / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 1058-1063, 2021.
Artículo
en Inglés
| WPRIM
| ID: wpr-922391
ABSTRACT
A 15-day-old boy was admitted to the hospital due to repeated convulsions for 14 days. The main clinical manifestations were uncontrolled seizures, hypoergia, feeding difficulties, limb hypotonia, and bilateral hearing impairment. Clinical neurophysiology showed reduced brainstem auditory evoked potential on both sides and burst-suppression pattern on electroencephalogram. Measurement of very-long-chain fatty acids in serum showed that C260 was significantly increased. Genetic testing showed a pathogenic compound heterozygous mutation, c.101C>T(p.Ala34Val) and c.1448_1460del(p.Ala483Aspfs*37), in the
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Deficiencia de Proteína
/
Pruebas Genéticas
/
Proteína-2 Multifuncional Peroxisomal
/
Hipotonía Muscular
/
Mutación
Límite:
Humanos
/
Masculino
/
Recién Nacido
Idioma:
Inglés
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2021
Tipo del documento:
Artículo
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