A clinical case of severe aromatic L-amino acid decarboxylase deficiency
https://doi.org/10.17650/2222-8721-2023-13-4-113-116
Abstract
We present a case of a rare disease, aromatic L-amino acid decarboxylase deficiency (AADCD), with delayed diagnosis even after a pathogenic mutation indicative of AADCD was found. In most cases, AADCD causes marked impairment of motor and psycho- speech development and is accompanied by severe episodes of dystonia – oculogyric crises. The careful attention of neurologists, pediatricians, geneticists, gastroenterologists, and pulmonologists in cases of a complex set of diverse symptoms determines the success of early diagnosis and the earliest possible prescription of modern gene replacement therapy for AADCD.
About the Authors
O. A. Shidlovskaya
Yu.E. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the N.I. Pirogov Russian National Research Medical University University
Russian Federation
Russian Federation
2 Taldomskaya St., Moscow 125412
S. B. Artemyeva
Yu.E. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the N.I. Pirogov Russian National Research Medical University University
Russian Federation
Russian Federation
2 Taldomskaya St., Moscow 125412
E. D. Belousova
Yu.E. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the N.I. Pirogov Russian National Research Medical University University
Russian Federation
Russian Federation
2 Taldomskaya St., Moscow 125412
Z. K. Gorchkhanova
Yu.E. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the N.I. Pirogov Russian National Research Medical University University
Russian Federation
Russian Federation
2 Taldomskaya St., Moscow 125412
References
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Review
For citations:
Shidlovskaya O.A., Artemyeva S.B., Belousova E.D., Gorchkhanova Z.K. A clinical case of severe aromatic L-amino acid decarboxylase deficiency. Neuromuscular Diseases. 2023;13(4):113‑116. (In Russ.) https://doi.org/10.17650/2222-8721-2023-13-4-113-116
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