Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1085-1089, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-800859
ABSTRACT
Objective@#To delineate the clinical and genetic features of two pedigrees affected with aromatic L-amino acid decarboxylase (AADC) deficiency.@*Methods@#The clinical features, family history and results of genetic testing of 2 patients with AADC deficiency were retrospectively analyzed.@*Results@#Both patients featured hypotension, developmental delay and oculogyric crisis during infancy.Genetic testing confirmed that they have respectively carried c. 714+ 4 (IVS6) A>T/c.175(exon2)G>A compound heterozygous variants and c. 714+ 4(IVS6)A>T homozygous variant.@*Conclusion@#The clinical manifestation of children with AADC deficiency may include hypotonia, developmental delay and paroxysmal oculogyric crisis. The combination of 3-O-methyldopa testing and variant analysis is not only very useful for early diagnosis, but also important for the evaluation of treatment effect and prognosis of the disease. Discovery of the novel variants has enriched the variant spectrum of AADC deficiency.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Prognostic study
/
Screening study
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
Similar
MEDLINE
...
LILACS
LIS