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

Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.

The Journal of clinical investigation - 1 Dec 2008

Bröer Stefan, Bailey Charles G, Kowalczuk Sonja, Ng Cynthia, Vanslambrouck Jessica M, Rodgers Helen, Auray-Blais Christiane, Cavanaugh Juleen A, Bröer Angelika, Rasko John E J

Abstract excerpt

Iminoglycinuria (IG) is an autosomal recessive abnormality of renal transport of glycine and the imino acids proline and hydroxyproline, but the specific genetic defect(s) have not been determined. Similarly, although the related disorder hyperglycinuria (HG) without iminoaciduria has been attributed to heterozygosity of a putative defective glycine, proline, and hydroxyproline transporter, confirming the...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Amino Acid Enzymes and Metabolism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Amino Acid Transport Systems, Neutral

Share to Family

Share to Metabolism and Genetic Disorders

Share to Mutation

Share to Pedigree

Share to Penetrance

Source

Open in PubMed Open full text

Identifiers

PMID: 19033659
DOI: 10.1172/JCI36625
PMCID: PMC2579706

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.PMID 19033659Read ↗

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.Semantic proximity Read ↗

The SLC6A19 gene mutation in a young man with hyperglycinuria and nephrolithiasis: a case report and literature review.Semantic proximity Read ↗

Identification and In Silico Characterization of a Novel COLGALT2 Gene Variant in a Child with Mucosal Rectal Prolapse.Semantic proximity Read ↗

Hyperekplexia-associated mutations in the neuronal glycine transporter 2.Semantic proximity Read ↗

Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20).Semantic proximity Read ↗

Novel compound heterozygous LIAS mutations cause glycine encephalopathy.Semantic proximity Read ↗

[Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene].Semantic proximity Read ↗

Possible Founder Effect of Glycine Encephalopathy: Evidence of a GLDC c.2714T>G (p.Val905Gly) Common Variant in the Paisa Community Based in Cali, Colombia.Semantic proximity Read ↗

A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.Semantic proximity Read ↗

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.Semantic proximity Read ↗

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.Semantic proximity Read ↗

Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.Semantic proximity Read ↗

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