Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.

Amino Acids Cross-Sectional Studies Glycine / metabolism Humans Hyperglycinemia, Nonketotic Infant, Newborn Serine Threonine
d-serine l-serine cerebrospinal fluid nonketotic hyperglycinemia threonine

Journal

Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918

Informations de publication

Date de publication:
07 2022
Historique:
revised: 24 03 2022
received: 23 02 2022
accepted: 28 03 2022
pubmed: 1 4 2022
medline: 20 7 2022
entrez: 31 3 2022
Statut: ppublish

Résumé

Nonketotic hyperglycinemia (NKH) is caused by deficient glycine cleavage enzyme activity and characterized by elevated brain glycine. Metabolism of glycine is connected enzymatically to serine through serine hydroxymethyltransferase and shares transporters with serine and threonine. We aimed to evaluate changes in serine and threonine in NKH patients, and relate this to clinical outcome severity. Age-related reference values were developed for cerebrospinal fluid (CSF) serine and threonine from 274 controls, and in a cross-sectional study compared to 61 genetically proven NKH patients, categorized according to outcome. CSF d-serine and l-serine levels were stereoselectively determined in seven NKH patients and compared to 29 age-matched controls. In addition to elevated CSF glycine, NKH patients had significantly decreased levels of CSF serine and increased levels of CSF threonine, even after age-adjustment. The CSF serine/threonine ratio discriminated between NKH patients and controls. The CSF glycine/serine aided in discrimination between severe and attenuated neonates with NKH. Over all ages, the CSF glycine, serine and threonine had moderate to fair correlation with outcome classes. After age-adjustment, only the CSF glycine level provided good discrimination between outcome classes. In untreated patients, d-serine was more reduced than l-serine, with a decreased d/l-serine ratio, indicating a specific impact on d-serine metabolism. We conclude that in NKH the elevation of glycine is accompanied by changes in l-serine, d-serine and threonine, likely reflecting a perturbation of the serine shuttle and metabolism, and of one-carbon metabolism. This provides additional guidance on diagnosis and prognosis, and opens new therapeutic avenues to be explored.

Identifiants

DOI: 10.1002/jimd.12500 PMID: 35357708 PMC: PMC9543955
pubmed: 35357708
doi: 10.1002/jimd.12500
pmc: PMC9543955
doi:

Substances chimiques

Amino Acids 0
Threonine 2ZD004190S
Serine 452VLY9402
Glycine TE7660XO1C

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

734-747

Informations de copyright

© 2022 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.

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Auteurs

Michael A Swanson (MA)

Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.

Kristen Miller (K)

Department of Pediatrics, Child Health Biostatistics Core, University of Colorado and Children's Hospital Colorado, Aurora, Colorado, USA.

Sarah P Young (SP)

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.

Suhong Tong (S)

Department of Pediatrics, Child Health Biostatistics Core, University of Colorado and Children's Hospital Colorado, Aurora, Colorado, USA.

Lina Ghaloul-Gonzalez (L)

Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Juanita Neira-Fresneda (J)

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

Lisa Schlichting (L)

Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.

Cheryl Peck (C)

Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.

Linda Gabel (L)

Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.

Marisa W Friederich (MW)

Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.
Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.

Johan L K Van Hove (JLK)

Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.
Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.

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questionsmedicales.fr › Acides aminés, peptides et protéines › Acides aminés › Cerebrospinal fluid amino acids glycine,...
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