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

Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia.

American journal of medical genetics. Part A - 1 Aug 2024

Drackley Andy, Peter Merlene, Rathbun Pamela, Ing Alexander, Prada Carlos E, Yap Kai Lee

Abstract excerpt

Nonketotic hyperglycinemia (NKH) is a relatively well-characterized inborn error of metabolism that results in a combination of lethargy, hypotonia, seizures, developmental arrest, and, in severe cases, death early in life. Three genes encoding components of the glycine cleavage enzyme system-GLDC, AMT, and GCSH-are independently associated with NKH. We report on a patient with severe NKH in whom the homozygous...

Read the complete abstract on PubMed

Topics

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

Share to Multienzyme Complexes
Share to Amino Acid Oxidoreductases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Glycine

Share to Homozygote

Share to Infant

Share to Infant, Newborn

Share to Transferases

Source

Identifiers

PMID: 38572626
DOI: 10.1002/ajmg.a.63622

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

Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia.PMID 38572626Read ↗

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

A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.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 ↗

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

Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.Semantic proximity Read ↗

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.Semantic proximity Read ↗

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.Semantic proximity Read ↗

Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.Semantic proximity Read ↗

A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia.Semantic proximity Read ↗

Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.Semantic proximity Read ↗

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

Atypical variants of nonketotic hyperglycinemia.Semantic proximity Read ↗

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