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C4OH is a Potential Screening Marker - A Multicenter Retrospective Study of Patients with Beta-Ketothiolase Deficiency in China

2020-12-23

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<title>Abstract</title> <p><bold>Background:</bold> Beta-ketothiolase deficiency (BKTD) is an autosomal recessive disorder caused by biallelic mutations in <italic>ACAT1 </italic>that affects both isoleucine catabolism and ketolysis. Scant information is available regarding the incidence, newborn screening (NBS), and mutational spectrum in China.<bold>Methods: </bold>We collected NBS, biochemical, clinical, and <...

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Literature Corpus work
7c74fe23-4a8d-5ccc-9209-58aecebd8054
DOI
10.21203/rs.3.rs-133651/v1
Open publication

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C4OH is a Potential Screening Marker - A Multicenter Retrospective Study of Patients with Beta-Ketothiolase Deficiency in ChinaDOI 10.21203/rs.3.rs-133651/v1
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