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Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation

2005Journal article Restricted access
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dc.contributor.authorAraújo, H. Caldeira
dc.contributor.authorSmit, W.
dc.contributor.authorVerhoeven, N.M.
dc.contributor.authorSalomons, G.S.
dc.contributor.authorSilva, S.
dc.contributor.authorVasconcelos, R.
dc.contributor.authorTomás, H.
dc.contributor.authorAlmeida, I. Tavares de
dc.contributor.authorJakobs, C.
dc.contributor.authorDuran, M.
dc.date.accessioned2019-07-05T14:15:37Z
dc.date.available2019-07-05T14:15:37Z
dc.date.issued2005
dc.description.abstractOur study describes the adult clinical and biochemical spectrum of guanidinoacetate methyltransferase (GAMT) deficiency, a recently discovered inborn error of metabolism. The majority of the previous reports dealt with pediatric patients, in contrast to the present study. A total of 180 institutionalized patients with a severe mental handicap were investigated for urine and plasma uric acid and creatinine. Patients with an increased urinary uric acid/creatinine ratio and/or decreased creatinine were subjected to the analysis of guanidinoacetate (GAA). Four patients (three related and one from an unrelated family) were identified with GAMT-deficiency. A fifth patient had died before a biochemical diagnosis could be made. They all had shown a normal psychomotor development for the first year of life, after which they developed a profound mental retardation. Three out of four had convulsions and all four totally lacked the development of speech. Their GAMT activity in lymphoblasts was impaired and two novel mutations were identified: the 59 G > C and 506 G > A missense mutations. Urinary GAA was increased, but highly variable 347-1,624 mmol/mol creat (Controls <150 mmol/mol creat). In plasma and CSF the GAA levels were fairly constant at 17.3-27.0 mumol/L (Controls 1.33-3.33) and 11.0-12.4 mumol/L, respectively (Controls 0.068-0.114). GAMT deficiency in adults is associated with severe mental retardation and absence or limited speech development. Convulsions may be prominent. The nonspecific nature of the clinical findings as well as the limited availability of GAA assays and/or in vivo magnetic resonance spectroscopy of the brain may mean that many more patients remain undiagnosed in institutions for persons with mental handicaps.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAraújo, H. C., Smit, W., Verhoeven, N. M., Salomons, G. S., Silva, S., Vasconcelos, R., ... & Duran, M. (2005). Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. American Journal of Medical Genetics Part A, 133(2), 122-127.pt_PT
dc.identifier.doi10.1002/ajmg.a.30226pt_PT
dc.identifier.issn: 0148-7299
dc.identifier.urihttp://hdl.handle.net/10400.13/2454
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.subjectCreatine biosynthesispt_PT
dc.subjectGuanidinoacetatept_PT
dc.subjectGuanidinoacetate methyltransferasept_PT
dc.subjectMental retardationpt_PT
dc.subjectConvulsionspt_PT
dc.subjectMutationspt_PT
dc.subject.pt_PT
dc.subjectFaculdade de Ciências Exatas e da Engenhariapt_PT
dc.titleGuanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage127pt_PT
oaire.citation.startPage122pt_PT
oaire.citation.titleAmerican Journal of Medical Genetics Part Apt_PT
oaire.citation.volume133A(2)pt_PT
person.familyNameCaldeira Araújo
person.familyNameTomás
person.givenNameHelena
person.givenNameHelena
person.identifier556975
person.identifier.ciencia-id5E1E-E1EA-1B40
person.identifier.ciencia-id4D14-D31E-A8BE
person.identifier.orcid0000-0003-2212-4859
person.identifier.orcid0000-0002-7856-2041
person.identifier.ridE-5991-2010
person.identifier.scopus-author-id14063100400
person.identifier.scopus-author-id6508104177
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication0e0cca92-5886-4679-a79c-e358ea928b6c
relation.isAuthorOfPublication3a747114-6ab9-454b-985b-00cbf792e273
relation.isAuthorOfPublication.latestForDiscovery0e0cca92-5886-4679-a79c-e358ea928b6c

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