Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

DNA carrier testing and newborn screening for maple syrup urine disease in Old Order Mennonite communities.

Genetic testing and molecular biomarkers - 1 Apr 2010

Carleton Stephanie M, Peck Dawn S, Grasela Julie, Dietiker Kristin L, Phillips Charlotte L

Abstract excerpt

Maple syrup urine disease (MSUD) is an inherited metabolic disorder caused by mutations in the branched chain alpha-keto acid dehydrogenase complex. Worldwide incidence of MSUD is 1:225,000 live births. However, within Old Order Mennonite communities, the incidence is 1:150 live births and results from a common tyrosine to asparagine substitution (Y438N) in the E1alpha subunit of branched chain alpha-keto acid...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Share to Amino Acid Substitution

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ethnicity

Share to Founder Effect

Share to Genetic Carrier Screening

Share to Maple Syrup Urine Disease

Share to Neonatal Screening

Share to Polymorphism, Restriction Fragment Length

Source

Open in PubMed Open full text

Identifiers

PMID: 20136525
DOI: 10.1089/gtmb.2009.0107
PMCID: PMC5586154

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DNA carrier testing and newborn screening for maple syrup urine disease in Old Order Mennonite communities.PMID 20136525Read ↗

Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR-RFLP: culturally permissible testing in the Mennonite community.Semantic proximity Read ↗

Noninvasive prenatal testing strategy detects maple syrup urine disease in a fetus: combination of genetic sequencing, maternal blood screening identifies single-gene mutation in vitro.Semantic proximity Read ↗

Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.Semantic proximity Read ↗

Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations.Semantic proximity Read ↗

Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex.Semantic proximity Read ↗

Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant formsSemantic proximity Read ↗

Evidence of common ancestry for the maple syrup urine disease (MSUD) Y438N allele in non-Mennonite MSUD patients.Semantic proximity Read ↗

Spectrum of Genetic Variants Associated with Maple Syrup Urine Disease in the Middle East and North Africa (MENA) Region: A Systematic ReviewSemantic proximity Read ↗

Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.Semantic proximity Read ↗

Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China.Semantic proximity Read ↗

Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.Semantic proximity Read ↗

Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.