Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10312762" target="_blank" >RIV/00216208:11110/15:10312762 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/15:10312762

Result on the web

<a href="http://dx.doi.org/10.1007/s10545-015-9830-z" target="_blank" >http://dx.doi.org/10.1007/s10545-015-9830-z</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s10545-015-9830-z" target="_blank" >10.1007/s10545-015-9830-z</a>

Result language

angličtina

Original language name

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Original language description

Newborn screening (NBS) is justified if early intervention is effective in a disorder generally not detected early in life on a clinical basis, and if sensitive and specific biochemical markers exist. Experience with NBS for homocystinurias and methylation disorders is limited. However, there is robust evidence for the success of early treatment with diet, betaine and/or pyridoxine for CBS deficiency and good evidence for the success of early betaine treatment in severe MTHFR deficiency. These conditions can be screened in dried blood spots by determining methionine (Met), methionine-to-phenylanine (Met/Phe) ratio, and total homocysteine (tHcy) as a second tier marker. Therefore, we recommend NBS for cystathionine beta-synthase and severe MTHFR deficiency. Weaker evidence is available for the disorders of intracellular cobalamin metabolism. Early treatment is clearly of advantage for patients with the late-onset cblC defect. In the early-onset type, survival and non-neurological sympto

Czech name

—

Czech description

—

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FB - Endocrinology, diabetology, metabolism, nutrition

OECD FORD branch

—

Project

—

Continuities

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Publication year

2015

Confidentiality

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

Name of the periodical

Journal of Inherited Metabolic Disease

ISSN

0141-8955

e-ISSN

—

Volume of the periodical

38

Issue of the periodical within the volume

6

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

13

Pages from-to

1007-1019

UT code for WoS article

000363980800002

EID of the result in the Scopus database

2-s2.0-84945474850