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Inborn disorder of serine family metabolism

MedGen UID:
1842840
•Concept ID:
C5681286
•
Disease or Syndrome
Synonyms: disorder of serine or glycine metabolism; Disorder of serine or glycine metabolism; inborn disorder of serine family metabolism; inborn disorder of serine or glycine metabolism; inborn error of serine family amino acid metabolic process; inborn serine family amino acid metabolic process disorder; rare inborn error of serine family amino acid metabolic process
 
Monarch Initiative: MONDO:0019239
Orphanet: ORPHA79194

Definition

An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInborn disorder of serine family metabolism

Professional guidelines

PubMed

Treatment of tuberous sclerosis complex manifestations in children with mTOR inhibitors.
Yeşil Ş, Kurucu B, Hamamcı MB, Yılmaz Ş, Şahin G
Childs Nerv Syst 2024 Mar;40(3):831-837. Epub 2023 Nov 10 doi: 10.1007/s00381-023-06218-2. PMID: 37947859

Recent clinical studies

Etiology

Treatment of tuberous sclerosis complex manifestations in children with mTOR inhibitors.
Yeşil Ş, Kurucu B, Hamamcı MB, Yılmaz Ş, Şahin G
Childs Nerv Syst 2024 Mar;40(3):831-837. Epub 2023 Nov 10 doi: 10.1007/s00381-023-06218-2. PMID: 37947859
Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
Ali A, Dhahouri NA, Almesmari FSA, Fathalla WM, Jasmi FA
Genes (Basel) 2021 May 8;12(5) doi: 10.3390/genes12050703. PMID: 34066864Free PMC Article
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
Oláhová M, Thompson K, Hardy SA, Barbosa IA, Besse A, Anagnostou ME, White K, Davey T, Simpson MA, Champion M, Enns G, Schelley S, Lightowlers RN, Chrzanowska-Lightowlers ZM, McFarland R, Deshpande C, Bonnen PE, Taylor RW
J Inherit Metab Dis 2017 Jan;40(1):121-130. Epub 2016 Sep 30 doi: 10.1007/s10545-016-9977-2. PMID: 27696117Free PMC Article
New therapies targeting apoB metabolism for high-risk patients with inherited dyslipidaemias: what can the clinician expect?
Sahebkar A, Watts GF
Cardiovasc Drugs Ther 2013 Dec;27(6):559-67. doi: 10.1007/s10557-013-6479-4. PMID: 23913122
Unravelling the twists and turns of the serpinopathies.
Roussel BD, Irving JA, Ekeowa UI, Belorgey D, Haq I, Ordóñez A, Kruppa AJ, Duvoix A, Rashid ST, Crowther DC, Marciniak SJ, Lomas DA
FEBS J 2011 Oct;278(20):3859-67. Epub 2011 Jun 20 doi: 10.1111/j.1742-4658.2011.08201.x. PMID: 21624056

Diagnosis

mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleinerüschkamp F, Oh J, Godefroid N, Eltan M, Güran T, Burtey S, Parotte MC, König J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmüller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF
J Am Soc Nephrol 2021 Nov;32(11):2885-2899. Epub 2021 Oct 4 doi: 10.1681/ASN.2021030333. PMID: 34607910Free PMC Article
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA
Am J Hum Genet 2019 Sep 5;105(3):534-548. Epub 2019 Aug 15 doi: 10.1016/j.ajhg.2019.07.015. PMID: 31422819Free PMC Article
Two new cases of serine deficiency disorders treated with l-serine.
Brassier A, Valayannopoulos V, Bahi-Buisson N, Wiame E, Hubert L, Boddaert N, Kaminska A, Habarou F, Desguerre I, Van Schaftingen E, Ottolenghi C, de Lonlay P
Eur J Paediatr Neurol 2016 Jan;20(1):53-60. Epub 2015 Nov 5 doi: 10.1016/j.ejpn.2015.10.007. PMID: 26610677
Genetics of familial hypercholesterolemia.
Brautbar A, Leary E, Rasmussen K, Wilson DP, Steiner RD, Virani S
Curr Atheroscler Rep 2015 Apr;17(4):491. doi: 10.1007/s11883-015-0491-z. PMID: 25712136
3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.
Kraoua I, Wiame E, Kraoua L, Nasrallah F, Benrhouma H, Rouissi A, Turki I, Chaabouni H, Briand G, Kaabachi N, Van Schaftingen E, Gouider-Khouja N
Neuropediatrics 2013 Oct;44(5):281-5. Epub 2013 Apr 6 doi: 10.1055/s-0033-1338133. PMID: 23564319

Therapy

Treatment of tuberous sclerosis complex manifestations in children with mTOR inhibitors.
Yeşil Ş, Kurucu B, Hamamcı MB, Yılmaz Ş, Şahin G
Childs Nerv Syst 2024 Mar;40(3):831-837. Epub 2023 Nov 10 doi: 10.1007/s00381-023-06218-2. PMID: 37947859
Two new cases of serine deficiency disorders treated with l-serine.
Brassier A, Valayannopoulos V, Bahi-Buisson N, Wiame E, Hubert L, Boddaert N, Kaminska A, Habarou F, Desguerre I, Van Schaftingen E, Ottolenghi C, de Lonlay P
Eur J Paediatr Neurol 2016 Jan;20(1):53-60. Epub 2015 Nov 5 doi: 10.1016/j.ejpn.2015.10.007. PMID: 26610677
Genetics of familial hypercholesterolemia.
Brautbar A, Leary E, Rasmussen K, Wilson DP, Steiner RD, Virani S
Curr Atheroscler Rep 2015 Apr;17(4):491. doi: 10.1007/s11883-015-0491-z. PMID: 25712136
New therapies targeting apoB metabolism for high-risk patients with inherited dyslipidaemias: what can the clinician expect?
Sahebkar A, Watts GF
Cardiovasc Drugs Ther 2013 Dec;27(6):559-67. doi: 10.1007/s10557-013-6479-4. PMID: 23913122
D(+)-glyceric aciduria: etiology and clinical consequences.
Bonham JR, Stephenson TJ, Carpenter KH, Rattenbury JM, Cromby CH, Pollitt RJ, Hull D
Pediatr Res 1990 Jul;28(1):38-41. doi: 10.1203/00006450-199007000-00009. PMID: 2165585

Prognosis

Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
Ali A, Dhahouri NA, Almesmari FSA, Fathalla WM, Jasmi FA
Genes (Basel) 2021 May 8;12(5) doi: 10.3390/genes12050703. PMID: 34066864Free PMC Article
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.
Mandel H, Saita S, Edvardson S, Jalas C, Shaag A, Goldsher D, Vlodavsky E, Langer T, Elpeleg O
J Med Genet 2016 Oct;53(10):690-6. Epub 2016 May 12 doi: 10.1136/jmedgenet-2016-103922. PMID: 27208207
New therapies targeting apoB metabolism for high-risk patients with inherited dyslipidaemias: what can the clinician expect?
Sahebkar A, Watts GF
Cardiovasc Drugs Ther 2013 Dec;27(6):559-67. doi: 10.1007/s10557-013-6479-4. PMID: 23913122
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
Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
Gencic S, Abuelo D, Ambler M, Hudson LD
Am J Hum Genet 1989 Sep;45(3):435-42. PMID: 2773936Free PMC Article

Clinical prediction guides

Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
Ali A, Dhahouri NA, Almesmari FSA, Fathalla WM, Jasmi FA
Genes (Basel) 2021 May 8;12(5) doi: 10.3390/genes12050703. PMID: 34066864Free PMC Article
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA
Am J Hum Genet 2019 Sep 5;105(3):534-548. Epub 2019 Aug 15 doi: 10.1016/j.ajhg.2019.07.015. PMID: 31422819Free PMC Article
New therapies targeting apoB metabolism for high-risk patients with inherited dyslipidaemias: what can the clinician expect?
Sahebkar A, Watts GF
Cardiovasc Drugs Ther 2013 Dec;27(6):559-67. doi: 10.1007/s10557-013-6479-4. PMID: 23913122
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
Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region.
Montini E, Andolfi G, Caruso A, Buchner G, Walpole SM, Mariani M, Consalez G, Trump D, Ballabio A, Franco B
Genomics 1998 Aug 1;51(3):427-33. doi: 10.1006/geno.1998.5391. PMID: 9721213

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