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Familial methionine malabsorption

MedGen UID:
78693
•Concept ID:
C0268622
•
Disease or Syndrome
Synonyms: METHIONINE MALABSORPTION SYNDROME; OASTHOUSE URINE DISEASE; SMITH-STRANG DISEASE
SNOMED CT: Oasthouse disease (45812003); Familial methionine malabsorption (45812003); Oast-house urine disease (45812003); Methionine malabsorption syndrome (45812003); Smith-Strang disease (45812003); Beery-baby syndrome (45812003); Oast-house disease (45812003)
 
Monarch Initiative: MONDO:0009608
OMIM®: 250900

Clinical features

From HPO
Aminoaciduria
MedGen UID:
116067
•Concept ID:
C0238621
•
Disease or Syndrome
An increased concentration of an amino acid in the urine.
See: Feature record | Search on this feature
Diarrhea
MedGen UID:
8360
•Concept ID:
C0011991
•
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
See: Feature record | Search on this feature
Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
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Tachypnea
MedGen UID:
66669
•Concept ID:
C0231835
•
Finding
Very rapid breathing.
See: Feature record | Search on this feature
Positive ferric chloride test
MedGen UID:
871120
•Concept ID:
C4025589
•
Finding
If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.
See: Feature record | Search on this feature
White hair
MedGen UID:
66797
•Concept ID:
C0239804
•
Finding
Hypopigmented hair that appears white.
See: Feature record | Search on this feature
Blue irides
MedGen UID:
108297
•Concept ID:
C0578626
•
Finding
A markedly blue coloration of the iris.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran.
Ventura P, Sardh E, Longo N, Balwani M, Plutzky J, Gouya L, Phillips J, Rhyee S, Fanelli MJ, Sweetser MT, Petrides PE
Expert Rev Gastroenterol Hepatol 2022 Sep;16(9):879-894. Epub 2022 Aug 25 doi: 10.1080/17474124.2022.2110469. PMID: 35929959
Preventive health care, 2000 update: screening and management of hyperhomocysteinemia for the prevention of coronary artery disease events. The Canadian Task Force on Preventive Health Care.
Booth GL, Wang EE
CMAJ 2000 Jul 11;163(1):21-9. PMID: 10920726Free PMC Article

Recent clinical studies

Etiology

Methyl nutrients, DNA methylation, and cardiovascular disease.
Glier MB, Green TJ, Devlin AM
Mol Nutr Food Res 2014 Jan;58(1):172-82. Epub 2013 May 10 doi: 10.1002/mnfr.201200636. PMID: 23661599
Homocysteine metabolism in polycystic ovary syndrome.
Grodnitskaya EE, Kurtser MA
Gynecol Endocrinol 2012 Mar;28(3):186-9. Epub 2011 Jul 27 doi: 10.3109/09513590.2011.589927. PMID: 21793705
Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study.
Jacques PF, Bostom AG, Selhub J, Rich S, Ellison RC, Eckfeldt JH, Gravel RA, Rozen R; National Heart, Lung and Blood Institute, National Institutes of Health
Atherosclerosis 2003 Jan;166(1):49-55. doi: 10.1016/s0021-9150(02)00204-6. PMID: 12482550
Determinants of fasting and post-methionine homocysteine levels in families predisposed to hyperhomocysteinemia and premature vascular disease.
de Jong SC, Stehouwer CD, van den Berg M, Kostense PJ, Alders D, Jakobs C, Pals G, Rauwerda JA
Arterioscler Thromb Vasc Biol 1999 May;19(5):1316-24. doi: 10.1161/01.atv.19.5.1316. PMID: 10323785
Clinical phenotypes in kidney transport disorders.
Bartsocas CS, Crawford JD
Birth Defects Orig Artic Ser 1974;10(4):118-26. PMID: 4377865

Diagnosis

Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran.
Ventura P, Sardh E, Longo N, Balwani M, Plutzky J, Gouya L, Phillips J, Rhyee S, Fanelli MJ, Sweetser MT, Petrides PE
Expert Rev Gastroenterol Hepatol 2022 Sep;16(9):879-894. Epub 2022 Aug 25 doi: 10.1080/17474124.2022.2110469. PMID: 35929959
An Inframe Trinucleotide Deletion in MTRR Exon 1 is Associated with the Risk of Spina Bifida.
Zhang J, Dai XL, Liu GC, Wang J, Ren XY, Jin MH, Mi NN, Wang SQ
Neuromolecular Med 2017 Sep;19(2-3):387-394. Epub 2017 Jul 15 doi: 10.1007/s12017-017-8452-z. PMID: 28712006
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Burda P, Kuster A, Hjalmarson O, Suormala T, Bürer C, Lutz S, Roussey G, Christa L, Asin-Cayuela J, Kollberg G, Andersson BA, Watkins D, Rosenblatt DS, Fowler B, Holme E, Froese DS, Baumgartner MR
J Inherit Metab Dis 2015 Sep;38(5):863-72. Epub 2015 Jan 30 doi: 10.1007/s10545-015-9810-3. PMID: 25633902
Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.
Tonetti C, Saudubray JM, Echenne B, Landrieu P, Giraudier S, Zittoun J
Eur J Pediatr 2003 Jul;162(7-8):466-475. Epub 2003 May 6 doi: 10.1007/s00431-003-1196-9. PMID: 12733064
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.
Kelly PJ, Furie KL, Kistler JP, Barron M, Picard EH, Mandell R, Shih VE
Neurology 2003 Jan 28;60(2):275-9. doi: 10.1212/01.wnl.0000042479.55406.b3. PMID: 12552044

Therapy

Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran.
Ventura P, Sardh E, Longo N, Balwani M, Plutzky J, Gouya L, Phillips J, Rhyee S, Fanelli MJ, Sweetser MT, Petrides PE
Expert Rev Gastroenterol Hepatol 2022 Sep;16(9):879-894. Epub 2022 Aug 25 doi: 10.1080/17474124.2022.2110469. PMID: 35929959
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Burda P, Kuster A, Hjalmarson O, Suormala T, Bürer C, Lutz S, Roussey G, Christa L, Asin-Cayuela J, Kollberg G, Andersson BA, Watkins D, Rosenblatt DS, Fowler B, Holme E, Froese DS, Baumgartner MR
J Inherit Metab Dis 2015 Sep;38(5):863-72. Epub 2015 Jan 30 doi: 10.1007/s10545-015-9810-3. PMID: 25633902
Methyl nutrients, DNA methylation, and cardiovascular disease.
Glier MB, Green TJ, Devlin AM
Mol Nutr Food Res 2014 Jan;58(1):172-82. Epub 2013 May 10 doi: 10.1002/mnfr.201200636. PMID: 23661599
Ischemic stroke and hyperhomocysteinemia: truth or myth?
Terwecoren A, Steen E, Benoit D, Boon P, Hemelsoet D
Acta Neurol Belg 2009 Sep;109(3):181-8. PMID: 19902811
Evidence of choline depletion and reduced betaine and dimethylglycine with increased homocysteine in plasma of children with cystic fibrosis.
Innis SM, Hasman D
J Nutr 2006 Aug;136(8):2226-31. doi: 10.1093/jn/136.8.2226. PMID: 16857845

Prognosis

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Burda P, Kuster A, Hjalmarson O, Suormala T, Bürer C, Lutz S, Roussey G, Christa L, Asin-Cayuela J, Kollberg G, Andersson BA, Watkins D, Rosenblatt DS, Fowler B, Holme E, Froese DS, Baumgartner MR
J Inherit Metab Dis 2015 Sep;38(5):863-72. Epub 2015 Jan 30 doi: 10.1007/s10545-015-9810-3. PMID: 25633902
Relationship between thrombophilic disorders and type of severe early-onset hypertensive disorder of pregnancy.
Ganzevoort W, Rep A, De Vries JI, Bonsel GJ, Wolf H; PETRA-Investigators
Hypertens Pregnancy 2007;26(4):433-45. doi: 10.1080/10641950701521601. PMID: 18066962
Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.
Tonetti C, Saudubray JM, Echenne B, Landrieu P, Giraudier S, Zittoun J
Eur J Pediatr 2003 Jul;162(7-8):466-475. Epub 2003 May 6 doi: 10.1007/s00431-003-1196-9. PMID: 12733064
Familial hyperhomocysteinaemia and endothelium-dependent vasodilatation and arterial distensibility of large arteries.
Lambert J, van den Berg M, Steyn M, Rauwerda JA, Donker AJ, Stehouwer CD
Cardiovasc Res 1999 Jun;42(3):743-51. doi: 10.1016/s0008-6363(98)00338-1. PMID: 10533615

Clinical prediction guides

Genetic variants of the folate metabolic system and mild hyperhomocysteinemia may affect ADHD associated behavioral problems.
Saha T, Chatterjee M, Verma D, Ray A, Sinha S, Rajamma U, Mukhopadhyay K
Prog Neuropsychopharmacol Biol Psychiatry 2018 Jun 8;84(Pt A):1-10. Epub 2018 Jan 31 doi: 10.1016/j.pnpbp.2018.01.016. PMID: 29407547
An Inframe Trinucleotide Deletion in MTRR Exon 1 is Associated with the Risk of Spina Bifida.
Zhang J, Dai XL, Liu GC, Wang J, Ren XY, Jin MH, Mi NN, Wang SQ
Neuromolecular Med 2017 Sep;19(2-3):387-394. Epub 2017 Jul 15 doi: 10.1007/s12017-017-8452-z. PMID: 28712006
Homocysteine metabolism in polycystic ovary syndrome.
Grodnitskaya EE, Kurtser MA
Gynecol Endocrinol 2012 Mar;28(3):186-9. Epub 2011 Jul 27 doi: 10.3109/09513590.2011.589927. PMID: 21793705
Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study.
Jacques PF, Bostom AG, Selhub J, Rich S, Ellison RC, Eckfeldt JH, Gravel RA, Rozen R; National Heart, Lung and Blood Institute, National Institutes of Health
Atherosclerosis 2003 Jan;166(1):49-55. doi: 10.1016/s0021-9150(02)00204-6. PMID: 12482550
Familial hyperhomocysteinaemia and endothelium-dependent vasodilatation and arterial distensibility of large arteries.
Lambert J, van den Berg M, Steyn M, Rauwerda JA, Donker AJ, Stehouwer CD
Cardiovasc Res 1999 Jun;42(3):743-51. doi: 10.1016/s0008-6363(98)00338-1. PMID: 10533615

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