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We report on 30 females and 16\u2009males from 10 countries with biallelic null variants in <jats:italic>CAVIN1<\/jats:italic> gene (mean age, 12\u2009years; range, 2\u2009months to 41\u2009years). Hypertriglyceridemia was seen in 79% (34\/43), hepatic steatosis in 82% (27\/33) but diabetes mellitus in only 21% (8\/44). Myopathy with elevated serum creatine kinase levels (346\u20133325\u2009IU\/L) affected all of them (38\/38). 39% had scoliosis (10\/26) and 57% had atlantoaxial instability (8\/14). Cardiac arrhythmias were detected in 57% (20\/35) and 46% had ventricular tachycardia (16\/35). Congenital pyloric stenosis was diagnosed in 39% (18\/46), 9 had esophageal dysmotility and 19 had intestinal dysmotility. Four patients suffered from intestinal perforations. Seven patients died at mean age of 17\u2009years (range: 2\u2009months to 39\u2009years). The cause of death in four patients was cardiac arrhythmia and sudden death, while others died of prematurity, gastrointestinal perforation, and infected foot ulcers leading to sepsis. Our study highlights high prevalence of myopathy, metabolic abnormalities, cardiac, and gastrointestinal problems in patients with CGL4. CGL4 patients are at high risk of early death mainly caused by cardiac arrhythmias.<\/jats:p>","DOI":"10.1002\/ajmg.a.63533","type":"journal-article","created":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T07:55:14Z","timestamp":1705564514000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Metabolic and other morbid complications in congenital generalized lipodystrophy type 4"],"prefix":"10.1002","volume":"194","author":[{"given":"Gulcin","family":"Akinci","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology University of Health Sciences, Izmir Faculty of Medicine, Behcet Uz Children's Hospital  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saif","family":"Alyaarubi","sequence":"additional","affiliation":[{"name":"Oman Medical Specialty Board  Muscat 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