Practical aspects of therapy for glutaric aciduria type 1-Reference-Cited by-同舟云学术

Practical aspects of therapy for glutaric aciduria type 1

Published:2021-12-29 Issue:4 Volume:11 Page:12-25
ISSN:2413-0443
Container-title:Neuromuscular Diseases
language:
Short-container-title:Neuromuscular Diseases

Author:

Zakharova E. Yu.¹,Mikhailova S. V.²,Zarubina V. V.³,Krasnoshchekova N. A.³,Pechatnikova N. L.³,Vorontsova V. P.²,Gribov D. I.²,Zazivihina M. V.²,Slatetskaya А. N.²,Kurkina M. V.¹,Baranova P. V.¹,Nazarenko L. P.⁴,Repina S. А.¹,Selimsyanova L. R.⁵,Vashakmadse N. D.⁵,Bushueva T. V.⁶

Affiliation:

1. Medical Genetic Research Center named after N.P. Bochkov

2. Russian Children’s Clinical Hospital of the Federal Autonomous Educational Institute of Higher Education, Russian National Medical Research University named after N.I. Pyrogov, Ministry of Health of Russia

3. Morozovskaya Children’s City Clinical Hospital of the Department of Healthcare of the City of Moscow

4. Tomsk National Research Medical Center of the Russian Academy of Sciences

5. Research Institute of Pediatrics and Children’s Health in Central Clinical Hospital of the Russian Academy of Sciences; Sechenov First Moscow State Medical University

6. National Medical Research Center for Children’s Health, Ministry of Health of Russia

Abstract

Treatment of many of the diseases in the panel of expanded newborn screening includes dietary therapy. Glutaric aciduria type 1 (GA1) is a hereditary disorder caused by mutations in the gene GCDH, encoding glutaryl‑CoA dehydrogenase, an enzyme in the amino acid metabolic pathways. The decreased activity of the enzyme leads to accumulation of neuro‑ toxic metabolites. The recommended treatment approaches for GA1 are the prescription of specialized nutrition products, levocarnitine, and symptomatic management. In 2021, clinical guidelines for the treatment of this rear disease were published in Russian Federation. To provide for the timely treatment, it is essential for a practitioner involved in the care patients with such a rare disorder as GA1 to have the knowledge of the principles of management, as well as practical algorithms for diet calculation.The article gives a detailed case‑based description of management during metabolic decompensation and the choice of dietary therapy for GA1 patients of different age groups.

Publisher

Publishing House ABV Press

Subject

Neurology (clinical),Neurology

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