Detection of 5′-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: Identification of patients deficient in adenylosuccinate lyase activity☆
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Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency
2022, Brain and DevelopmentCitation Excerpt :Validation of parents showed heterozygosity for the splice site variant in the father and for the missense variant in the mother (Supplementary Figure). Bratton-Marshall-test (BMT) was positive confirming the presence of succinyl-aminoimidazole-carboxamide (SAICA) riboside in urine using methodology described by Laikind et al. [8]. ATIC deficiency is a very rare inborn error of purine metabolism affecting neurodevelopment, vision, bone and growth.
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
2016, Molecular Genetics and Metabolism ReportsDisorders of purines and pyrimidines
2014, Handbook of Clinical NeurologyCitation Excerpt :Marie et al. (2004) reported a female patient with profound mental retardation, epilepsy, congenital blindness, and dysmorphic features associated with severe deficiency of ATIC. Of note, there was a positive urinary Bratton–Marshall test for diazotizable amines (Laikind et al., 1986), which is indicative of accumulation of 5AICA-riboside which is a distinctive feature of ADSL deficiency. However, further analysis revealed a large accumulation of AICAR as well as its di- and triphosphate derivatives, which supports this enzyme deficiency as a primary component and which was also supported by sequencing of the ATIC gene.
Metabolic disorders of purine metabolism affecting the nervous system
2013, Handbook of Clinical NeurologyCitation Excerpt :Diagnosis is based on the presence in urine and cerebrospinal fluid of the succinyl purines, S-Ado and SAICA-riboside, both normally nearly undetectable. For screening, a modified Bratton-Marshall test (Laikind et al., 1986), performed on urine, appears most practical. False positive results may be observed in patients who receive antibiotics, particularly sulfonamides, and antiepileptic medications.
Metabolic and monogenic causes of seizures in neonates and young infants
2011, Molecular Genetics and Metabolism
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This work was supported in part by NIH Training Grant PHS AM07318, Stallone Foundation for Autism Research, Purine 24 Foundation, Public Health Service Grants AM13622 and GM17702, and the Keck Foundation.