Zakašnjela dijagnoza nedostatka arginaze 1 (ARG1-D) može otežati kretanje prema naprijed1-2.  

ARG1‑D: PROGRESIVNA, ONESPOSOBLJAVAJUĆA, NASLJEDNA METABOLIČKA BOLEST3-5 

Nedostatak arginaze 1 (ARG1-D) povezan je s trajnim povišenjem arginina u plazmi i, ako se ne dijagnosticira, može dovesti do značajnog morbiditeta i rane smrtnosti6-9.

SAZNAJTE VIŠE O ARG1-D

Visoke koncentracije arginina u plazmi u djetinjstvu mogu napredovati i uzrokovati invalidnost u odrasloj dobi1,4,7.

Toddlerhood progression (2 - 4 years) of Arginase 1 Deficiency.

Dojenačko doba 

Infancy progression (6 - 12 months) of Arginase 1 Deficiency.

Dob malog djeteta 

Childhood progression (5 - 10 years) of Arginase 1 Deficiency.

Djetinjstvo 

Adolescence progression (11 - 17 years) of Arginase 1 Deficiency.

Adolescencija 

Adulthood progression of Arginase 1 Deficiency.

Odrasla dob 

VIDI CIJELU PROGRESIJU

Videozapis sa stručnjakom

Izvanredni profesor Vladimir Bzduch, specijalist Klinike za metaboličke bolesti Slovačkog nacionalnog instituta za dječje bolesti i doktor opće medicine – o argininemiji i problemima dijagnostičkog postupka.



Reference:
1. Huemer M, et al. J Inherit Metab Dis. 2016;39:331-340. 2. Bakhiet M, et al. Medicine (Baltimore). 2018;97:e10780. 3. Diez-Fernandez C, et al. Hum Mutat. 2018;39:1029-1050. 4. Carvalho DR, et al. Pediatr Neurol. 2012;46:369-374. 5. Häberle J, et al. J Inherit Metab Dis. 2019;1–39. 6. De Deyn PP, et al. Hyperargininemia: a treatable inborn error of metabolism. In: Guanidino Compounds in Biology and Medicine. London, UK: John Libbey Company Ltd; 1997:53-69. 7. Crombez EA, Cederbaum SD. Mol Genet Metab. 2005;84:243-251. 8. Sun A, et al. Arginase deficiency. In: Adam MP, et al, eds. GeneReviews®. Seattle, WA: University of Washington, Seattle; 2020. 9. Diaz GA, et al. Poster presented at: 13th European Paediatric Neurology Society (EPNS) Congress; September 17-21, 2019; Athens, Greece. Poster P06-34.