Molybdenum cofactor deficiency caused by
- Author:
Lian-Hong WU
1
;
Yan JIANG
1
;
Yue HU
1
Author Information
1. Department of Neurology, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Ministry of Education Key Laboratory of Child Development and Disorders/Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China.
- Publication Type:Journal Article
- MeSH:
Carbon-Carbon Lyases;
China;
Humans;
Infant, Newborn;
Male;
Metal Metabolism, Inborn Errors;
Mutation;
Uric Acid
- From:
Chinese Journal of Contemporary Pediatrics
2021;23(4):416-419
- CountryChina
- Language:Chinese
-
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
