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Titolo:
Metabolic studies in older mentally retarded patients: Significance of metabolic testing and correlation with the clinical phenotype
Autore:
Van Buggenhout, GJCM; Trijbels, JMF; Wevers, R; Trommelen, JCM; Hamel, BCJ; Brunner, HG; Fryns, JP;
Indirizzi:
Catholic Univ Louvain, Ctr Human Genet, B-3000 Louvain, Belgium Catholic Univ Louvain Louvain Belgium B-3000 et, B-3000 Louvain, Belgium Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Univ Nijmegen Nijmegen Netherlands t Human Genet, Nijmegen, Netherlands Univ Nijmegen, Med Ctr, Lab Paediat & Neurol, Nijmegen, Netherlands Univ Nijmegen Nijmegen Netherlands diat & Neurol, Nijmegen, Netherlands Inst Mentally Retarded, Udenhout, Netherlands Inst Mentally Retarded Udenhout Netherlands rded, Udenhout, Netherlands
Titolo Testata:
GENETIC COUNSELING
fascicolo: 1, volume: 12, anno: 2001,
pagine: 1 - 21
SICI:
1015-8146(2001)12:1<1:MSIOMR>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
METHIONINE ADENOSYLTRANSFERASE DEFICIENCY; SULFITE OXIDASE DEFICIENCY; BETA-GLUCURONIDASE DEFICIENCY; BIOCHEMICAL OBSERVATIONS; II CITRULLINEMIA; GENE; ADULT; MUCOPOLYSACCHARIDOSIS; IDENTIFICATION; GM1-GANGLIOSIDOSIS;
Keywords:
mental retardation; metabolic disorders; aminoacidopathy; lysosomal disorder; organic acid disorder; purine/pyrimidine disorder; CDG syndrome; SLO syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
50
Recensione:
Indirizzi per estratti:
Indirizzo: Van Buggenhout, GJCM Catholic Univ Louvain, Ctr Human Genet, Herestr 49, B-3000 Louvain, Belgium Catholic Univ Louvain Herestr 49 Louvain Belgium B-3000
Citazione:
G.J.C.M. Van Buggenhout et al., "Metabolic studies in older mentally retarded patients: Significance of metabolic testing and correlation with the clinical phenotype", GEN COUNSEL, 12(1), 2001, pp. 1-21

Abstract

In 471 adult mentally retarded adult patients (mean age 46 years; 92.6% males) living in an institution for the mentally retarded, a clinical examination, cytogenetic and molecular studies were done. 306 patients were screened for metabolic disorders. In 7 additional patients a metabolic disorder (phenylketonuria (n=5), mucopolysaccharidosis type III (Sanfilippo syndrome,type A) (n=1) and mucopolgsaccharidosis type VII (Sly syndrome) (n=1)) wasdiagnosed in the past. The abnormal metabolic findings in this group of 313 patients were classified in three categories and the clinical findings are reported: 1, metabolic disorders as the cause of mental retardation (MR),2. metabolic disorders not explaining the MR, and 3, metabolic abnormalities of unknown significance. The first two groups included 16 patients, i.e.26.2% of the group of monogenic disorders and 3.4% of the total population: phenylketonuria (PKU) (n=5), S-sulfocysteinuria (n=3), mucopolysaccharidosis type III (Sanfilippo syndrome, type A) (n=1) and Gm1-gangliosidosis type 3 (n=1) (first group), and mucopolysaccharidosis type VII (Sly syndrome) (n=1), Niemann-Pick syndrome, type B (n=1), cystinuria (n=1) and hyperprolinemia type 1 (n=3) (second group). The third group included patients with citrullinemia (n=2), methionine sulphoxide reductase deficiency (n=1), ornithinemia (n=1), glycinuria (n=20), neuraminaciduria (n=8), uraciluria (n=6) and diabetes mellitus (n=2), Screening for Congenital Disorders of Glycosylation (CDG) in 144 patients and for Smith-Lemli-Opitz syndrome (SLO) in a selected group of 6 patients was normal. Of the total group of 306 patients screened for inborn errors of metabolism, only 5 (1.6%) were found with a true metabolic disorder. These 5 patients presented clinical symptoms, neurodegenerative or behavioural problems, indicating further metabolic screening. The present study illustrates that a selected group of patients with mental retardation of unknown origin are candidates for metabolic screening, especially if aberrant behaviour, neurodegenerative problems or dysmorphic features are present.

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Documento generato il 19/09/20 alle ore 11:59:06