Lethal Fetal and Early Neonatal Presentation of Adenylosuccinate Lyase Deficiency: Observation of 6 Patients in 4 Families - 12/08/11
Reprint requests: Dr. Rainer Rossi, Klinik für Kinder und Jugendmedizin, Klinikum Neukölln, Rudower Strasse 48, D–12313 Berlin.Résumé |
Objective |
To characterize a new lethal fetal and early postnatal variant of adenylosuccinate lyase (ADSL) deficiency.
Study design |
This was a retrospective analysis of 6 patients with very early presentation of ADSL deficiency.
Results |
Most of the 6 patients had impaired intrauterine growth, microcephaly, fetal hypokinesia, and a lack of fetal heart rate variability. Postnatally, they shared severe muscular hypotonia necessitating mechanical ventilation, intractable seizures, and early death. All 6 patients had biochemical evidence of severe (type 1) disease and low residual ADSL activities. All were compound heterozygous for mutations that, based on expression studies, have a pronounced effect on ADSL activity and/or stability.
Conclusions |
ADSL deficiency may present with prenatal growth restriction, fetal and neonatal hypokinesia, and rapidly fatal neonatal encephalopathy. This clinical presentation is associated with genotypes resulting in very low residual enzyme activity.
Le texte complet de cet article est disponible en PDF.Abbreviations : ADSL, AICAR, AMP, CSF, SAICAR, SAICAr, S-Ado, S-AMP
Plan
| Supported by the Czech Republic Ministry of Education (grants 1M 68378050008 and MSM 0021620806). |
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| Mouchegh and Zikánová contributed equally to this work. |
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| The authors have no conflicts of interest with the sponsor with respect to data collection, study design, writing of the report, and decision to submit the manuscript. None of the authors received any payment for the production of this work. |
Vol 150 - N° 1
P. 57 - janvier 2007 Retour au numéro
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