D-bifunctional protein deficiency caused by / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 1058-1063, 2021.
Artigo
em Inglês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Deficiência de Proteína
/
Testes Genéticos
/
Proteína Multifuncional do Peroxissomo-2
/
Hipotonia Muscular
/
Mutação
Limite:
Humanos
/
Masculino
/
Recém-Nascido
Idioma:
Inglês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2021
Tipo de documento:
Artigo
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