Impact of newborn screening and early dietary management on clinical outcome of patients with long chain 3-hydroxyacyl-coa dehydrogenase deficiency and medium chain acyl-coa dehydrogenase deficiency-a retrospective nationwide study

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11320%2F21%3A10431941" target="_blank" >RIV/00216208:11320/21:10431941 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11120/21:43922050 RIV/00216208:11110/21:10431941 RIV/00098892:_____/21:N0000127 RIV/00064165:_____/21:10431941 and 2 more

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=0YwuzV7s9k" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=0YwuzV7s9k</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3390/nu13092925" target="_blank" >10.3390/nu13092925</a>

Result language

angličtina

Original language name

Impact of newborn screening and early dietary management on clinical outcome of patients with long chain 3-hydroxyacyl-coa dehydrogenase deficiency and medium chain acyl-coa dehydrogenase deficiency-a retrospective nationwide study

Original language description

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD/MTPD) and medium chain acyl-CoA dehydrogenase deficiency (MCADD) were included in the expanded neonatal screening program (ENBS) in Czechia in 2009, allowing for the presymptomatic diagnosis and nutritional management of these patients. The aim of our study was to assess the nationwide impact of ENBS on clinical outcome. This retrospective study analysed acute events and chronic complications and their severity in pre-ENBS and post-ENBS cohorts. In total, 28 children (12 before, 16 after ENBS) were diagnosed with LCHADD/MTPD (incidence 0.8/100,000 before and 1.2/100,000 after ENBS). In the subgroup detected by ENBS, a significantly longer interval from birth to first acute encephalopathy was observed. In addition, improvement in neuropathy and cardiomyopathy (although statistically non-significant) was demonstrated in the post-ENBS subgroup. In the MCADD cohort, we included 69 patients (15 before, 54 after ENBS). The estimated incidence rose from 0.7/100,000 before to 4.3/100,000 after ENBS. We confirmed a significant decrease in the number of episodes of acute encephalopathy and lower proportion of intellectual disability after ENBS (p &lt; 0.0001). The genotype-phenotype correlations suggest a new association between homozygosity for the c.1528C &gt; G variant and more severe heart involvement in LCHADD patients.

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30308 - Nutrition, Dietetics

Project

<a href="/en/project/NU20-08-00367" target="_blank" >NU20-08-00367: New biomarkers of inherited metabolic diseases</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2021

Confidentiality

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

Name of the periodical

Nutrients [online]

ISSN

2072-6643

e-ISSN

—

Volume of the periodical

13

Issue of the periodical within the volume

9

Country of publishing house

CH - SWITZERLAND

Number of pages

18

Pages from-to

2925

UT code for WoS article

000701580700001

EID of the result in the Scopus database

2-s2.0-85113770306