Expanding the phenotype in argininosuccinic aciduria: need for new therapies.

doi:10.1007/s10545-017-0022-x

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Article

Expanding the phenotype in argininosuccinic aciduria: need for new therapies.

Journal of inherited metabolic disease - 1 May 2017

Baruteau Julien, Jameson Elisabeth, Morris Andrew A, Chakrapani Anupam, Santra Saikat, Vijay Suresh, Kocadag Huriye, Beesley Clare E, Grunewald Stephanie, Murphy Elaine, Cleary Maureen, Mundy Helen, Abulhoul Lara, Broomfield Alexander, Lachmann Robin, Rahman Yusof, Robinson Peter H, MacPherson Lesley, Foster Katharine, Chong W Kling, Ridout Deborah A, Bounford Kirsten McKay, Waddington Simon N, Mills Philippa B, Gissen Paul, Davison James E

Abstract excerpt

OBJECTIVES: This UK-wide study defines the natural history of argininosuccinic aciduria and compares long-term neurological outcomes in patients presenting clinically or treated prospectively from birth with ammonia-lowering drugs. METHODS: Retrospective analysis of medical records prior to March 2013, then prospective analysis until December 2015. Blinded review of brain MRIs. ASL genotyping. RESULTS: Fifty-six...

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PMID: 28251416
DOI: 10.1007/s10545-017-0022-x
PMCID: PMC5393288

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