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Article

Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.

PLoS computational biology - 1 May 2020

Farris Joseph, Calhoun Barbara, Alam Md Suhail, Lee Shaun, Haldar Kasturi

Abstract excerpt

Monogenetic diseases provide unique opportunity for studying complex, clinical states that underlie neurological severity. Loss of glycine decarboxylase (GLDC) can severely impact neurological development as seen in non-ketotic hyperglycinemia (NKH). NKH is a neuro-metabolic disorder lacking quantitative predictors of disease states. It is characterized by elevation of glycine, seizures and failure to thrive, but...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32421718
DOI: 10.1371/journal.pcbi.1007871
PMCID: PMC7259800

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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.

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