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Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
Eur J Hum Genet 2009; 17(1):133-6EJ

Abstract

Adenylosuccinate lyase deficiency is a rare autosomal disorder of de novo purine synthesis, which results in the accumulation of succinylpurines in body fluids. Patients with adenylosuccinate lyase deficiency show a variable combination of mental retardation, epilepsy and autistic features and are usually discovered during screens for unexplained encephalopathy using the Bratton-Marshall assay that reveals the excretion of the succinylaminoimidazolecarboxamide riboside (SAICAr). Here, we report on two sisters aged 11 and 12 years presented with global developmental delay, motor apraxia, severe speech deficits, seizures and behavioural features, which combined excessive laughter, a very happy disposition, hyperactivity, a short attention span, the mouthing of objects, tantrums and stereotyped movements that gave a behavioural profile mimicking Angelman syndrome. Both patients had an increased succinyladenosine/SAICAr ratio of 1.6, and exhibited a novel homozygous missense mutation (c.674T>C; p.Met225Thr) in the exon 6 of the ADSL gene. We suggest that these clinical features might be a new presentation of adenylosuccinate lyase deficiency. On the basis of this observation, although adenylosuccinate lyase deficiency is a rare disorder, this diagnosis should be considered in patients with mental retardation and a behavioural profile suggestive of Angelman syndrome.

Authors+Show Affiliations

Département de Pédiatrie, Hoôpital Necker Enfants Malades, AP-HP, Université Paris Descartes, Paris, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18830228

Citation

Gitiaux, Cyril, et al. "Misleading Behavioural Phenotype With Adenylosuccinate Lyase Deficiency." European Journal of Human Genetics : EJHG, vol. 17, no. 1, 2009, pp. 133-6.
Gitiaux C, Ceballos-Picot I, Marie S, et al. Misleading behavioural phenotype with adenylosuccinate lyase deficiency. Eur J Hum Genet. 2009;17(1):133-6.
Gitiaux, C., Ceballos-Picot, I., Marie, S., Valayannopoulos, V., Rio, M., Verrieres, S., ... Bahi-Buisson, N. (2009). Misleading behavioural phenotype with adenylosuccinate lyase deficiency. European Journal of Human Genetics : EJHG, 17(1), pp. 133-6. doi:10.1038/ejhg.2008.174.
Gitiaux C, et al. Misleading Behavioural Phenotype With Adenylosuccinate Lyase Deficiency. Eur J Hum Genet. 2009;17(1):133-6. PubMed PMID: 18830228.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Misleading behavioural phenotype with adenylosuccinate lyase deficiency. AU - Gitiaux,Cyril, AU - Ceballos-Picot,Irène, AU - Marie,Sandrine, AU - Valayannopoulos,Vassili, AU - Rio,Marlène, AU - Verrieres,Séverine, AU - Benoist,Jean François, AU - Vincent,Marie Françoise, AU - Desguerre,Isabelle, AU - Bahi-Buisson,Nadia, Y1 - 2008/10/01/ PY - 2008/10/3/entrez PY - 2008/10/3/pubmed PY - 2009/2/6/medline SP - 133 EP - 6 JF - European journal of human genetics : EJHG JO - Eur. J. Hum. Genet. VL - 17 IS - 1 N2 - Adenylosuccinate lyase deficiency is a rare autosomal disorder of de novo purine synthesis, which results in the accumulation of succinylpurines in body fluids. Patients with adenylosuccinate lyase deficiency show a variable combination of mental retardation, epilepsy and autistic features and are usually discovered during screens for unexplained encephalopathy using the Bratton-Marshall assay that reveals the excretion of the succinylaminoimidazolecarboxamide riboside (SAICAr). Here, we report on two sisters aged 11 and 12 years presented with global developmental delay, motor apraxia, severe speech deficits, seizures and behavioural features, which combined excessive laughter, a very happy disposition, hyperactivity, a short attention span, the mouthing of objects, tantrums and stereotyped movements that gave a behavioural profile mimicking Angelman syndrome. Both patients had an increased succinyladenosine/SAICAr ratio of 1.6, and exhibited a novel homozygous missense mutation (c.674T>C; p.Met225Thr) in the exon 6 of the ADSL gene. We suggest that these clinical features might be a new presentation of adenylosuccinate lyase deficiency. On the basis of this observation, although adenylosuccinate lyase deficiency is a rare disorder, this diagnosis should be considered in patients with mental retardation and a behavioural profile suggestive of Angelman syndrome. SN - 1476-5438 UR - https://www.unboundmedicine.com/medline/citation/18830228/Misleading_behavioural_phenotype_with_adenylosuccinate_lyase_deficiency_ L2 - http://dx.doi.org/10.1038/ejhg.2008.174 DB - PRIME DP - Unbound Medicine ER -