D-bifunctional protein deficiency caused by / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 1058-1063, 2021.
Article
em En
| WPRIM
| ID: wpr-922391
Biblioteca responsável:
WPRO
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
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Índice:
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Assunto principal:
Deficiência de Proteína
/
Testes Genéticos
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Proteína Multifuncional do Peroxissomo-2
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Hipotonia Muscular
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Mutação
Limite:
Humans
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Male
/
Newborn
Idioma:
En
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2021
Tipo de documento:
Article