D-bifunctional protein deficiency caused by / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 1058-1063, 2021.
Article
in English
| 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
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Protein Deficiency
/
Genetic Testing
/
Peroxisomal Multifunctional Protein-2
/
Muscle Hypotonia
/
Mutation
Limits:
Humans
/
Male
/
Infant, Newborn
Language:
English
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2021
Type:
Article
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