Publication
Mental retardation: a common clinical hallmark of creatine deficiency disorders
| dc.contributor.author | Valongo, Carla | |
| dc.contributor.author | Almeida, Lígia | |
| dc.contributor.author | Ramos, Altina | |
| dc.contributor.author | Santos, Raquel Andreia | |
| dc.contributor.author | Vilarinho, Laura | |
| dc.date.accessioned | 2017-02-17T10:04:29Z | |
| dc.date.available | 2017-02-17T10:04:29Z | |
| dc.date.issued | 2013-03 | |
| dc.description.abstract | Introduction: In Western countries, mental retardation (MR) affects about 3% of the general population. For the majority of the cases of inherited MR, the genetic causes are not yet elucidated. Patients with creatine deficiency disorders (CDD) may present with MR/developmental delay as well as expressive speech and language delay, autism and epilepsy. They represent a group of treatable inborn errors of creatine biosynthesis and transport (SLC6A8) across the blood brain barrier. Patients and Methods: A group of children and young adults with MR were studied for defects in creatine metabolism. We started with the determination of guanidinoacetate and creatine in 6,600 urine samples by GC-MS-SIM. DNA mutation analysis was performed in all suspected cases. Results: Urine biochemical analysis revealed seven cases compatible with GAMT deficiency and 15 patients suggestive of a defect in SLC6A8. All GAMT deficient patients show the same mutation which suggests a founder effect in our population. SLC6A8 deficiency patients revealed a large spectrum of mutations. Discussion: So far, 22 patients with CDD were identified in our laboratory (1:300). We believe these defects are still under diagnosed, so the possibility should be considered in all children affected by unexplained MR, seizures, and speech delay. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/4226 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | pt_PT |
| dc.subject | Creatine Deficiency Disorders | pt_PT |
| dc.subject | Mental Retardation | pt_PT |
| dc.subject | Doenças Raras | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.subject | Guanidinoacetate | pt_PT |
| dc.subject | Creatine | pt_PT |
| dc.title | Mental retardation: a common clinical hallmark of creatine deficiency disorders | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Coimbra, Portugal | pt_PT |
| oaire.citation.title | IX International Symposium – Sociedade Portuguesa de Doenças Metabólicas (SPDM), 21-22 março 2013 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |