Case reportFirst U.S. case of adenylosuccinate lyase deficiency with severe hypotonia☆,☆☆
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Cited by (23)
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: First three cases
2010, Pediatric NeurologyCitation Excerpt :In particular, the fatal neonatal form typically exhibits a succinyladenosine:SAICAR ratio of <1, compared with a ratio of ∼1.0 in the severe type presenting in early infancy with severe developmental problems (such as those described in case 2) [6-10]. Succinyladenosine:SAICAR ratios of ≥2 are usually found in moderate or mild phenotypes presenting in the first few years of childhood (as illustrated by case 3) [10-13]. More than 40 mutations associated with ADSL mutations have been reported to date, all of them missense mutations, including the recurrent c.1279G>A (p.Arg426His) substitution, associated with a most severe encephalopathic form of the disease in the homozygous state [13].
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency
2008, Molecular Genetics and MetabolismAdenylosuccinate lyase deficiency: An unusual cause of neonatal seizure
2008, Archives de PediatrieAdenylosuccinate lyase deficiency
2006, Molecular Genetics and MetabolismNeuropediatric approach to autism
2005, Archives de Pediatrie
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Presented in part in abstract form at the 33rd SSIEM annual symposium, Cardiff, Wales 1996, and published in abstract form in J Inherit Metab Dis 1996;19(suppl. 1):A22.
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This work was supported in part by Mayo Foundation and by Project No. IGA MZCR 1831-2. Until December 1995, 3800 specimens were analyzed by high-resolution TLC at Mayo Clinic, Rochester, MN, and 800 were analyzed at J. Gregor Mendel Children's Hospital, Brno, The Czech Republic. Three urine specimens from ASL-deficient patients were provided by Dr. Jakub Krijt, Center for Hereditary Metabolic Disorders, Prague, The Czech Republic (known cases 2–4, 4a, 4b are two different specimens from the same patient); one was provided by Dr. Georges van den Berghe, International Institute of Cellular and Molecular Pathology, Brussels, Belgium (known case 1).