CrossRef Open Access 2024 1 sitasi

A clinical case of severe aromatic L-amino acid decarboxylase deficiency

O. A. Shidlovskaya S. B. Artemyeva E. D. Belousova Z. K. Gorchkhanova

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Abstrak

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.

Penulis (4)

O. A. Shidlovskaya

S. B. Artemyeva

E. D. Belousova

Z. K. Gorchkhanova

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Shidlovskaya, O.A., Artemyeva, S.B., Belousova, E.D., Gorchkhanova, Z.K. (2024). A clinical case of severe aromatic L-amino acid decarboxylase deficiency. https://doi.org/10.17650/2222-8721-2023-13-4-113-116

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Lihat di Sumber doi.org/10.17650/2222-8721-2023-13-4-113-116

Informasi Jurnal

Tahun Terbit: 2024
Bahasa: en
Total Sitasi: 1×
Sumber Database: CrossRef
DOI: 10.17650/2222-8721-2023-13-4-113-116
Akses: Open Access ✓