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Article

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.

Orphanet journal of rare diseases - 1 Mar 2021

Mastrogiorgio Gerarda, Macchiaiolo Marina, Buonuomo Paola Sabrina, Bellacchio Emanuele, Bordi Matteo, Vecchio Davide, Brown Kari Payne, Watson Natalie Karen, Contardi Benedetta, Cecconi Francesco, Tartaglia Marco, Bartuli Andrea

Abstract excerpt

BACKGROUND: Adenylosuccinate lyase deficiency (ADSLD) is an ultrarare neurometabolic recessive disorder caused by loss-of-function mutations in the ADSL gene. The disease is characterized by wide clinical variability. Here we provide an updated clinical profiling of the disorder and discuss genotype-phenotype correlations. RESULTS: Data were collected through "Our Journey with ADSL deficiency Association" by...

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PMID: 33648541
DOI: 10.1186/s13023-021-01731-6
PMCID: PMC7919308

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