Molybdenum cofactor deficiency caused by / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 416-419, 2021.
Article
in Zh
| WPRIM
| ID: wpr-879869
Responsible library:
WPRO
ABSTRACT
A boy attended the hospital at the age of 1 month due to left hand tremor for 1 week. A blood test showed a reduction in serum uric acid and a cranial MRI showed encephalomalacia, atrophy, and cystic changes. The boy had microcephalus, unusual facial features (long face, long forehead, protruded forehead, long philtrum, low nasal bridge, facial swelling, and thick lower lip), hypertonia of lower extremities, and severe global developmental delay. Whole-exome sequencing performed for the boy detected a homozygous mutation, c.217C > T(p.R73W), in the
Full text:
1
Index:
WPRIM
Main subject:
Uric Acid
/
China
/
Carbon-Carbon Lyases
/
Metal Metabolism, Inborn Errors
/
Mutation
Limits:
Humans
/
Male
/
Newborn
Country/Region as subject:
Asia
Language:
Zh
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2021
Type:
Article