Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency

2019 
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. Key words: Aromatic L-amino acid decarboxylase deficiency; Diagnosis; Gene variant
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