D-bifunctional protein deficiency caused by / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 1058-1063, 2021.
Article
de En
| WPRIM
| ID: wpr-922391
Bibliothèque responsable:
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 C26:0 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
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Carence protéique
/
Dépistage génétique
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Protéine-2 multifonctionnelle péroxysomique
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Hypotonie musculaire
/
Mutation
Limites du sujet:
Humans
/
Male
/
Newborn
langue:
En
Texte intégral:
Chinese Journal of Contemporary Pediatrics
Année:
2021
Type:
Article