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Erschienen in:

01.02.2010 | Original Article

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation

verfasst von: Angela Sempere, Angela Arias, Guillermo Farré, Judith García-Villoria, Pilar Rodríguez-Pombo, Lurdes R. Desviat, Begoña Merinero, Angels García-Cazorla, Maria A. Vilaseca, Antonia Ribes, Rafael Artuch, Jaume Campistol

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 1/2010

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Abstract

Mental retardation (MR) is a common disorder frequently of unknown origin. Because there are few studies regarding MR and inborn errors of metabolism (IEM), we aimed to identify patients with IEM from a cohort of 944 patients with unexplained MR. Biochemical examinations such as determination of creatine (Cr) metabolites, acylcarnitines, purine, and pyrimidines in urine were applied. We found seven patients with IEM [three with cerebral Cr deficiency syndromes (CCDS)], one with adenylosuccinate lyase (ADSL) deficiency, and three, born before the neonatal metabolic screening program in Catalonia, with phenylketonuria (PKU). All told, they represent 0.8% of the whole cohort. All of them had additional symptoms such as epilepsy, movement disorders, autism, and other psychiatric disturbances. In conclusion, in patients with MR, it is essential to perform a thorough appraisal of the associated signs and symptoms, and in most disorders, it is necessary to apply specific analyses. In some cases, it is important to achieve an early diagnosis and therapy, which may reduce the morbimortality, and to offer genetic counselling.

Andrade F, Prieto JA, Elorz J, Martín S, Sanjurjo P, Aldámiz-Echevarría L (2008) Stability of urinary glycosaminoglycans in patients with mucopolysaccharidoses. Clin Chim Acta 388(1–2):73–77CrossRefPubMed

Arias A, Ormazabal A, Moreno J et al (2006) Methods for the diagnosis of creatine deficiency syndrome: a comparative study. J Neurosci Methods 156:305–309CrossRefPubMed

Arias A, Corbella M, Fons C et al (2007) Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. Clin Biochem 40:1328–1331CrossRefPubMed

Artuch R, Colomé C, Sierra C et al (2004) A longitudinal study of antioxidant status in phenylketonuric patients. Clin Biochem 37:198–203CrossRefPubMed

Battaglia A, Carey JC (2003) Diagnostic evaluation of developmental delay/mental retardation: an overview. Am J Med Genet Part C (Semin Med Genet) 117C:1–2CrossRef

Campistol J, Lambruschini N, Vilaseca MA, Cambra FJ, Fusté E, Gómez L (2001) Hiperfenilalaninemias. In: Sanjunjo P, Baldellou A (eds) Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias. Ergon, Madrid, pp 195–206

Clark AJ, Rosenberg EH, Almeida LS et al (2006) X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet 119:604−610CrossRefPubMed

Curry C, Stevenson R, Aughton D et al (1997) Evaluation of mental retardation: recommendations of a consensus conference: American College of Medical Genetics. Am J Med Genet 72:468–477CrossRefPubMed

Espinós C, Pineda M, Martínez-Rubio D et al (2009) Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. J Med Genet 46:407–411CrossRefPubMed

García-Cazorla A, Pérez-Dueñas B, Pineda M, Artuch R, Vilaseca MA, Campistol J (2006) Orientation of mental retardation from neurometabolic diseases. Rev Neurol 43(Suppl 1):S187–S192PubMed

García-Cazorla A, Wolf NI, Serrano M et al (2009) Inborn errors of metabolism and motor disturbances in children. J Inherit Metab Dis 32:618−629CrossRefPubMed

Hunter A (2000) Outcome of the routine assessment of patients with mental retardation in a genetics clinic. Am J Med Genet 90:60–68CrossRefPubMed

Jurecka A, Tylki-Szymanska A, Zikanova M, Krijt J, Kmoch S (2008) D-Ribose therapy in four patients with adenylosuccinate lyase deficiency: absence of positive effect. J Inherit Metab Dis. doi:10.1007/s10545-008-0904-z

Lion-Francois L, Cheillan D, Pitelet G et al (2006) High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. Neurology 67:1713–1714CrossRefPubMed

Matilainen R, Airaksinen E, Mononen T, Launiala K, Kaariainen R (1995) A population-based study on the causes of mild and severe mental retardation. Acta Paediatr 84:261–266CrossRefPubMed

Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S, Adami A et al (2006) GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology 67:480–484CrossRefPubMed

Moeschler JB (2008) Genetic evaluation of intellectual disabilities. Semin Pediatr Neurol 15:2–9CrossRefPubMed

Moog U, Die-Smulders C, Martens H, Schrander-Stumpel C, Spaapen L (2008) To test or not to test? Metabolic testing in adolescents and adults with intellectual disability. J Policy Pract Intellect Dis 5:167–173CrossRef

Newmeyer A, Cecil KM, Schapiro M, Clark JF, Degrauw TJ (2005) Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging. J Dev Behav Pediatr 26:276–282CrossRefPubMed

Papavasiliou AS, Bazigou H, Paraskevoulakos E, Kotsalis C (2000) Neurometabolic testing in developmental delay. J Child Neurol 15:620–622CrossRefPubMed

Ryan R, Sunada K (1997) Medical evaluation of persons with mental retardation referred to psychiatric assessment. Gen Hosp Psychiatry 19:274–280CrossRefPubMed

Salerno C, D'Eufemia P, Finocchiaro R et al (1999) Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency. Biochim Biophys Acta 1453:135–140PubMed

Salomons GS, Van Dooren SJ, Verhoeven NM et al (2001) X-linked creatine transporter gene (SLC6A8) defect: a new creatine deficiency syndrome. Am J Hum Genet 68:1497–1500CrossRefPubMed

Sempere A, Fons C, Arias A et al (2009) Creatine transporter deficiency in two adult patients with static encephalopathy. J Inherit Metab Dis. doi:10.1007/s10545-009-1083-2 PubMed

Spiegel EK, Colman RF, Patterson D (2006) Adenylosuccinate lyase deficiency. Mol Genet Metab 89:19–31CrossRefPubMed

Stöckler S, Isbrandt D, Hanefeld F, Schmidt B, Von Figura K (1996) Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet 58:914–922PubMed

Stockler S, Schutz PW, Salomons GS (2007) Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. Subcell Biochem 46:149–166CrossRefPubMed

Tanaka K, West-Dull A, Hine DG, Lynn TB, Lowe T (1980) Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias. Clin Chem 26:1847–1853PubMed

Tortorelli S, Hahn SH, Cowan TM, Brewster TG, Rinaldo P, Matern D (2005) The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. Mol Genet Metab 84:137–143CrossRefPubMed

Van Buggenhout GJ, Trijbels JM, Wevers R et al (2001) Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype. Genet Couns 12:1–21PubMed

Van Karnebeek CD, Jansweijer MC, Leenders AG, Offringa M, Hennekam RC (2005a) Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet 13:6–25CrossRefPubMed

Van KarnebeeK CD, Sheper FY, Abeling NG et al (2005b) Etiology of mental retardation in children referred to a tertiary care center: a prospective study. Am J Ment Retard 110:253–267CrossRefPubMed

Zhang C, Xu K, Dave UP, Wang Y, Matsumoto I (2000) Inborn errors of metabolism discovered in Asian department of pediatrics and mental retardation research center. J Chromatograph 746:41–49CrossRef

Titel: Study of inborn errors of metabolism in urine from patients with unexplained mental retardation
verfasst von: Angela Sempere
Angela Arias
Guillermo Farré
Judith García-Villoria
Pilar Rodríguez-Pombo
Lurdes R. Desviat
Begoña Merinero
Angels García-Cazorla
Maria A. Vilaseca
Antonia Ribes
Rafael Artuch
Jaume Campistol
Publikationsdatum: 01.02.2010
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 1/2010
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-009-9004-y

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