Abstract | OBJECTIVE: 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.
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Authors | Katharina Mouchegh, Marie Zikánová, Georg F Hoffmann, Benno Kretzschmar, Thomas Kühn, Eva Mildenberger, Gisela Stoltenburg-Didinger, Jakub Krijt, Lenka Dvoráková, Tomás Honzík, Jiri Zeman, Stanislav Kmoch, Rainer Rossi |
Journal | The Journal of pediatrics
(J Pediatr)
Vol. 150
Issue 1
Pg. 57-61.e2
(Jan 2007)
ISSN: 1097-6833 [Electronic] United States |
PMID | 17188615
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA
- Adenylosuccinate Lyase
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Topics |
- Adenylosuccinate Lyase
(deficiency, genetics)
- DNA
(genetics)
- Fatal Outcome
- Female
- Fetal Death
(enzymology, etiology)
- Follow-Up Studies
- Gene Expression
- Genetic Predisposition to Disease
- Humans
- Infant, Newborn
- Male
- Mutation
- Pregnancy
- Purine-Pyrimidine Metabolism, Inborn Errors
(complications, enzymology, genetics)
- Retrospective Studies
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