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Neurometabolic disorder due to serine deficiency

MedGen UID:
1842451
•Concept ID:
C5680148
•
Disease or Syndrome
Synonyms: neurometabolic disorder due to serine deficiency; Serine deficiency; serine deficiency
 
Monarch Initiative: MONDO:0018162
Orphanet: ORPHA35705

Definition

Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms). [from ORDO]

Professional guidelines

PubMed

Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S, Artuch R, Heales S, Rahman S
J Inherit Metab Dis 2019 Jul;42(4):655-672. Epub 2019 May 2 doi: 10.1002/jimd.12092. PMID: 30916789

Recent clinical studies

Etiology

Effect of l-serine and magnesium ions on the functional properties of human phosphoserine phosphatase and its pathogenetic variants.
Marchesani F, Comani VB, Bruno S, Mozzarelli A, Carcelli M, Pollegioni L, Caldinelli L, Peracchi A, Campanini B
Biochim Biophys Acta Mol Basis Dis 2024 Mar;1870(3):167034. Epub 2024 Jan 24 doi: 10.1016/j.bbadis.2024.167034. PMID: 38278334
Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization.
Marchesani F, Michielon A, Viale E, Bianchera A, Cavazzini D, Pollegioni L, Murtas G, Mozzarelli A, Bettati S, Peracchi A, Campanini B, Bruno S
Biomolecules 2023 Aug 4;13(8) doi: 10.3390/biom13081219. PMID: 37627284Free PMC Article
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
Lamari F, Mochel F, Sedel F, Saudubray JM
J Inherit Metab Dis 2013 May;36(3):411-25. Epub 2012 Jul 20 doi: 10.1007/s10545-012-9509-7. PMID: 22814679
Serine-deficiency syndromes.
de Koning TJ, Klomp LW
Curr Opin Neurol 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. PMID: 15021249
Continuing education in neurometabolic disorders--serine deficiency disorders.
de Koning TJ, Poll-The BT, Jaeken J
Neuropediatrics 1999 Feb;30(1):1-4. doi: 10.1055/s-2007-973447. PMID: 10222452

Diagnosis

Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder.
Kanmaz S, Simsek E, Yilmaz S, Durmaz A, Serin HM, Gokben S
Acta Neurol Belg 2023 Feb;123(1):121-127. Epub 2021 May 17 doi: 10.1007/s13760-021-01700-7. PMID: 34002331
Neuroimaging Spectrum of Inherited Neurotransmitter Disorders.
Lim YT, Mankad K, Kinali M, Tan AP
Neuropediatrics 2020 Feb;51(1):6-21. Epub 2019 Oct 21 doi: 10.1055/s-0039-1698422. PMID: 31634934
Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S, Artuch R, Heales S, Rahman S
J Inherit Metab Dis 2019 Jul;42(4):655-672. Epub 2019 May 2 doi: 10.1002/jimd.12092. PMID: 30916789
Serine-deficiency syndromes.
de Koning TJ, Klomp LW
Curr Opin Neurol 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. PMID: 15021249
Continuing education in neurometabolic disorders--serine deficiency disorders.
de Koning TJ, Poll-The BT, Jaeken J
Neuropediatrics 1999 Feb;30(1):1-4. doi: 10.1055/s-2007-973447. PMID: 10222452

Therapy

Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder.
Kanmaz S, Simsek E, Yilmaz S, Durmaz A, Serin HM, Gokben S
Acta Neurol Belg 2023 Feb;123(1):121-127. Epub 2021 May 17 doi: 10.1007/s13760-021-01700-7. PMID: 34002331
Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S, Artuch R, Heales S, Rahman S
J Inherit Metab Dis 2019 Jul;42(4):655-672. Epub 2019 May 2 doi: 10.1002/jimd.12092. PMID: 30916789
3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.
Coşkun T, Aydin HI, Kiliç M, Dursun A, Haliloğlu G, Topaloğlu H, Karli-Oğuz K, de Koning TJ
Turk J Pediatr 2009 Nov-Dec;51(6):587-92. PMID: 20196394
Continuing education in neurometabolic disorders--serine deficiency disorders.
de Koning TJ, Poll-The BT, Jaeken J
Neuropediatrics 1999 Feb;30(1):1-4. doi: 10.1055/s-2007-973447. PMID: 10222452

Prognosis

Effect of l-serine and magnesium ions on the functional properties of human phosphoserine phosphatase and its pathogenetic variants.
Marchesani F, Comani VB, Bruno S, Mozzarelli A, Carcelli M, Pollegioni L, Caldinelli L, Peracchi A, Campanini B
Biochim Biophys Acta Mol Basis Dis 2024 Mar;1870(3):167034. Epub 2024 Jan 24 doi: 10.1016/j.bbadis.2024.167034. PMID: 38278334
3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.
Coşkun T, Aydin HI, Kiliç M, Dursun A, Haliloğlu G, Topaloğlu H, Karli-Oğuz K, de Koning TJ
Turk J Pediatr 2009 Nov-Dec;51(6):587-92. PMID: 20196394
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.
Klomp LW, de Koning TJ, Malingré HE, van Beurden EA, Brink M, Opdam FL, Duran M, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van den Berg IE, Berger R
Am J Hum Genet 2000 Dec;67(6):1389-99. Epub 2000 Oct 27 doi: 10.1086/316886. PMID: 11055895Free PMC Article

Clinical prediction guides

Effect of l-serine and magnesium ions on the functional properties of human phosphoserine phosphatase and its pathogenetic variants.
Marchesani F, Comani VB, Bruno S, Mozzarelli A, Carcelli M, Pollegioni L, Caldinelli L, Peracchi A, Campanini B
Biochim Biophys Acta Mol Basis Dis 2024 Mar;1870(3):167034. Epub 2024 Jan 24 doi: 10.1016/j.bbadis.2024.167034. PMID: 38278334
Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S, Artuch R, Heales S, Rahman S
J Inherit Metab Dis 2019 Jul;42(4):655-672. Epub 2019 May 2 doi: 10.1002/jimd.12092. PMID: 30916789
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
Nesbitt V, Morrison PJ, Crushell E, Donnelly DE, Alston CL, He L, McFarland R, Taylor RW
Dev Med Child Neurol 2012 Jun;54(6):500-6. Epub 2012 Feb 27 doi: 10.1111/j.1469-8749.2012.04224.x. PMID: 22364517
Serine-deficiency syndromes.
de Koning TJ, Klomp LW
Curr Opin Neurol 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. PMID: 15021249
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.
Klomp LW, de Koning TJ, Malingré HE, van Beurden EA, Brink M, Opdam FL, Duran M, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van den Berg IE, Berger R
Am J Hum Genet 2000 Dec;67(6):1389-99. Epub 2000 Oct 27 doi: 10.1086/316886. PMID: 11055895Free PMC Article

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