Inherited disorders of sulfur amino acid metabolism: recent advances in therapy

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F21%3A10427335" target="_blank" >RIV/00216208:11110/21:10427335 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/21:10427335

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=E62OpYsra4" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=E62OpYsra4</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1097/MCO.0000000000000705" target="_blank" >10.1097/MCO.0000000000000705</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Inherited disorders of sulfur amino acid metabolism: recent advances in therapy

Popis výsledku v původním jazyce

Purpose of review: Metabolism of sulfur amino acids (SAA) provides compounds important for many cellular functions. Inherited disorders of SAA metabolism are typically severe multisystemic diseases affecting brain, liver, connective tissue, or vasculature. The review summarizes the present therapeutic approaches and advances in identifying novel treatment targets, and provides an overview of new therapies. Recent findings: Current treatments of genetic disorders of SAA metabolism are primarily based on modulation of affected pathways by dietary measures and provision of lacking products or scavenging of toxic molecules. Recent studies identified additional therapeutic targets distant from the primary defects and explored ideas envisioning novel treatments, such as chaperone and gene therapy. Recombinant protein production and engineering resulted in development and clinical testing of enzyme therapies for cystathionine β-synthase deficiency, the most common inborn error of SAA metabolism. Summary: Complex regulation of pathways involved in SAA metabolism and cellular consequences of genetic defects in SAA metabolism are only partially understood. There is a pressing need to increase substantially our knowledge of the disease mechanisms to develop more effective therapies for patients suffering from these rare disorders.

Název v anglickém jazyce

Inherited disorders of sulfur amino acid metabolism: recent advances in therapy

Popis výsledku anglicky

Purpose of review: Metabolism of sulfur amino acids (SAA) provides compounds important for many cellular functions. Inherited disorders of SAA metabolism are typically severe multisystemic diseases affecting brain, liver, connective tissue, or vasculature. The review summarizes the present therapeutic approaches and advances in identifying novel treatment targets, and provides an overview of new therapies. Recent findings: Current treatments of genetic disorders of SAA metabolism are primarily based on modulation of affected pathways by dietary measures and provision of lacking products or scavenging of toxic molecules. Recent studies identified additional therapeutic targets distant from the primary defects and explored ideas envisioning novel treatments, such as chaperone and gene therapy. Recombinant protein production and engineering resulted in development and clinical testing of enzyme therapies for cystathionine β-synthase deficiency, the most common inborn error of SAA metabolism. Summary: Complex regulation of pathways involved in SAA metabolism and cellular consequences of genetic defects in SAA metabolism are only partially understood. There is a pressing need to increase substantially our knowledge of the disease mechanisms to develop more effective therapies for patients suffering from these rare disorders.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10600 - Biological sciences

Projekt

<a href="/cs/project/NV19-01-00307" target="_blank" >NV19-01-00307: Etiologie závažných poruch metabolismu sirných aminokyselin: využití pro cílenou diagnostiku a personalizovanou léčbu v České republice</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2021

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Current Opinion in Clinical Nutrition and Metabolic Care

ISSN

1363-1950

e-ISSN

—

Svazek periodika

24

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

9

Strana od-do

62-70

Kód UT WoS článku

000612742100011

EID výsledku v databázi Scopus

2-s2.0-85098602635