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Pathological variants in the <jats:italic>SLC33A1<\/jats:italic> gene coding for AT\u20101 have been linked to a disorder called Huppke\u2010Brendel syndrome, which is characterized by congenital cataracts, hearing loss, severe developmental delay and early death. It has been described in eight patients so far, who all had the abovementioned symptoms together with low serum copper and ceruloplasmin concentrations. The link between AT\u20101 and low ceruloplasmin concentrations is not clear, nor is the complex pathogenesis of the disease. Here we describe a further case of Huppke\u2010Brendel syndrome with a novel and truncating homozygous gene variant and provide novel biochemical data on N\u2010acetylated amino acids in cerebrospinal fluid (CSF) and plasma. Our results indicate that decreased levels of many N\u2010acetylated amino acids in CSF are a typical metabolic fingerprint for AT\u20101 deficiency and are potential biomarkers for the defect. As acetyl\u2010CoA is an important substrate for protein acetylation, we performed N\u2010terminal proteomics, but found only minor effects on this particular protein modification. The acetyl\u2010CoA content in patient's fibroblasts was insignificantly decreased. Our data may help to better understand the mechanisms underlying the metabolic disturbances, the pathophysiology and the clinical phenotype of the disease.<\/jats:p>","DOI":"10.1002\/jimd.12549","type":"journal-article","created":{"date-parts":[[2022,8,24]],"date-time":"2022-08-24T05:08:48Z","timestamp":1661317728000},"page":"1048-1058","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in <scp>acetyl\u2010CoA<\/scp> transporter deficiency"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1799-3980","authenticated-orcid":false,"given":"Katarina","family":"\u0160iki\u0107","sequence":"first","affiliation":[{"name":"Department of Pediatrics University Hospital Center Zagreb  Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tessa M. 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