{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Akinci G"],"funding":["NIDDK NIH HHS","National Institutes of Health","Southwestern Medical Foundation","NIH HHS"],"pagination":["e63533"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11060913"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["194(6)"],"pubmed_abstract":["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 intestin"],"journal":["American journal of medical genetics. Part A"],"pubmed_title":["Metabolic and other morbid complications in congenital generalized lipodystrophy type 4."],"pmcid":["PMC11060913"],"funding_grant_id":["R01 DK105448","R01‐DK105448","R01-DK105448"],"pubmed_authors":["Hamed A","Alhashmi N","Sorkina E","Kamrath C","Al Senani A","Al Hosin A","Can E","Chakraborty PP","Oral EA","Babalola F","Beghini M","Scherer T","Simsir IY","Patni N","Tuysuz B","Cavdar U","Simha V","Garg A","Topaloglu H","Akinci B","Saydam BO","Akinci G","Curtis J","Gagne N","Dursun F","Muniraj K","Alyaarubi S","Allawati M","Elsayed SM","Huseinbegovic T","Al-Shidhani A","Prodam F","Al Maimani A","Wabitsch M","Dogan OA","Vaishnav MS","Comunoglu N","Brown RJ"],"additional_accession":[]},"is_claimable":false,"name":"Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.","description":"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 intestin","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jun","modification":"2026-06-03T06:35:44.782Z","creation":"2026-04-25T03:20:43.138Z"},"accession":"S-EPMC11060913","cross_references":{"pubmed":["38234231"],"doi":["10.1002/ajmg.a.63533"]}}