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Palliative Care Approach in a Case of Severe Nonketotic Hyperglycinemia With Long Survival: A Case Report

Year: 2025
Type: article
Study design: Case Report
Abstract: Nonketotic hyperglycinemia (NKH) is a rare autosomal recessive metabolic disorder characterized by defective glycine cleavage, resulting in glycine accumulation, particularly in the central nervous system. The severe neonatal form typically presents with early-onset encephalopathy, refractory epilepsy, and poor neurodevelopment, often leading to early mortality. We report a male patient with genetically confirmed severe NKH who is currently alive at seven years of age - one of the longest reported survivals for this form. He presented within the first day of life with hypotonia, myoclonic seizures, and coma. Diagnosis was supported by markedly elevated glycine levels in plasma, urine, and cerebrospinal fluid (CSF), with a CSF/plasma glycine ratio of 0.19, as well as characteristic MRI findings. Despite early institution of glycine-lowering agents and antiepileptic therapy, he developed refractory epilepsy and profound neurodevelopmental delay. Comprehensive and continuous multidisciplinary care, including pediatric palliative care, was established early and coordinated across care settings. Although there is no curative therapy for severe NKH, this case illustrates that early and sustained multidisciplinary palliative care can significantly enhance the quality of life and potentially extend survival in affected patients. While developmental outcomes remained poor, the integrated care model minimized hospitalizations, stabilized clinical status, and provided essential family support.
Source: Cureus
DOI: 10.7759/cureus.91636
Language: English
Open Access status: diamond
OpenAlex ID: W4414026262
FWCI:
Cites: 17
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Related to: 10