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I. Carchon, P. Bitoun, m. Vincent, B. Benzacken, L. Benzacken, J. Bursztyn, J. Gaudelus, B. Heron; A New Cause of Congenital Blindness: Adenylosuccinase Lyase Deficiency . Invest. Ophthalmol. Vis. Sci. 2003;44(13):4885.
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Purpose:To identify and diagnose a new cause of congenital blindness using metabolic screening tests in patients with congenital blindness, seizures and psychomotor delay. Methods:Urinary Bratton-Marshall test was positive suggesting adenylosuccinase lysase deficiency (ADSLD)and confirmed by increased succinyl aminoimidazole carboxamide ribotide (SAICAR)in urine and succinyl adenosine by HPLC. ADSLD is a rare metabolic autosomal recessive disease of varying severity. Results:A 4 year girl with congenital blindness showed atrophic pigmented chorio retinal lesions bilaterally . She had hypotonia, seizures dysmorphic facies and psychomotor delay and was diagnosed with ADSLD with a positive Bratton Marshall test and urinary SAICAR found by HPLC. The ADSLD gene is mapped on chromosome 22q13.1-q13.2 and mutation analysis is in progress. A second patient had visual impairment with retinal involvment. Conclusions: Adenylosuccinase lyase deficiency should be considered as a cause of congenital blindness in children with psychomotor delay with or without seizures.
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