Article

Variant Nonketotic Hyperglycinemia Presenting with Elevated Lactate and Pyruvate: A Diagnostic and Management Challenge

2025-07-17

Abstract excerpt

<title>Abstract</title> <p>Background Non-ketotic hyperglycinemia (NKH) is a rare autosomal recessive metabolic disorder resulting from a defect in the glycine cleavage system, leading to accumulation of glycine in the central nervous system. The classic neonatal form presents as a life-threatening metabolic encephalopathy within the first few days of life. Case Presentation: We report a term neonate, born to a 3...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 3e2c41f3-c6b2-515d-9825-1031f7825bdb
DOI: 10.21203/rs.3.rs-6771023/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Variant Nonketotic Hyperglycinemia Presenting with Elevated Lactate and Pyruvate: A Diagnostic and Management ChallengeDOI 10.21203/rs.3.rs-6771023/v1Read

Nonketotic Hyperglycinemia: Two Case Reports and ReviewSemantic proximity Read

Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center.Semantic proximity Read

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

A known and a novel mutation in the glycine decarboxylase gene in a newborn with classic nonketotic hyperglycinemia.Semantic proximity Read

Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations.Semantic proximity Read

Nonketotic Hyperglycinemia of Infants in Taiwan.Semantic proximity Read

Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.Semantic proximity Read

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

Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients.Semantic proximity Read

Neurological Presentations in Pediatric Patients with Inborn Errors of Metabolism: A single-center studySemantic proximity Read

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

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