biostudies-literatureAkinci GNIDDK NIH HHSNational Institutes of HealthSouthwestern Medical FoundationNIH HHSe63533https://www.ebi.ac.uk/biostudies/studies/S-EPMC11060913biostudies-literatureUnknown194(6)Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null variants in CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). 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 (346-3325 IU/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 intestinAmerican journal of medical genetics. Part AMetabolic and other morbid complications in congenital generalized lipodystrophy type 4.PMC11060913R01 DK105448R01‐DK105448R01-DK105448Hamed AAlhashmi NSorkina EKamrath CAl Senani AAl Hosin ACan EChakraborty PPOral EABabalola FBeghini MScherer TSimsir IYPatni NTuysuz BCavdar USimha VGarg ATopaloglu HAkinci BSaydam BOAkinci GCurtis JGagne NDursun FMuniraj KAlyaarubi SAllawati MElsayed SMHuseinbegovic TAl-Shidhani AProdam FAl Maimani AWabitsch MDogan OAVaishnav MSComunoglu NBrown RJfalseMetabolic and other morbid complications in congenital generalized lipodystrophy type 4.Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null variants in CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). 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 (346-3325 IU/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 intestin2024-01-01T00:00:00Z2024 Jun2026-06-03T06:35:44.782Z2026-04-25T03:20:43.138ZS-EPMC110609133823423110.1002/ajmg.a.63533