Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0015695 (fatty liver)
 13,941 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease that is characterized by a near-complete absence of adipose tissue from birth or early infancy. Mutations in the BSCL2 gene are known to result in CGL2, a more severe phenotype than CGL1, with earlier onset, more extensive fat loss and biochemical changes, more severe intellectual impairment, and more severe cardiomyopathy. We report a 3-month-old Taiwanese boy with initial presentation of a lack of subcutaneous fat, prominent musculature, generalized eruptive xanthomas, and extreme hypertriglyceridemia. Absence of mechanical adipose tissue in the orbits and scalp was revealed by head magnetic resonance imaging. Hepatomegaly was noticed, and histological examination of a liver biopsy specimen suggested severe hepatic steatosis and periportal necrosis. However, echocardiography indicated no sign of cardiomyopathy and he showed no distinct intellectual impairment that interfered with daily life. About 1 year later, abdominal computed tomography revealed enlargement of kidneys. He had a homozygous insertion of a nucleotide, 783insG (Ile262fs mutation), in exon 7 of the BSCL2 gene. We reviewed the genotype of CGL cases from Japan, India, China and Taiwan, and found that BSCL2 is a major causative gene for CGL in Asian.
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PMID:A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene. 2112 15

Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by lipoatrophy affecting the face, limbs and trunk, acromegaloid features, hepatomegaly, hypertriglyceridemia, and insulin resistance. The aim of this study is to evaluate the long-term follow-up findings including gastrointestinal and cardiac manifestations of the patients with CGL1 and CGL4, caused by mutations in the AGPAT2 and CAVIN1 genes, respectively. Two patients aged 2 and 9 years with the same biallelic CAVIN1 mutation and five patients aged between 6 months and 11 years 4 months with AGPAT2 mutations have been followed up for 3-9 years. The patients were between 7 and 20 years of age at their last examination. One of the two patients with CGL4 had congenital pyloric stenosis. The other patient with CGL4 have developed recurrent duodenal perforations which have not been reported in CGL patients previously. The pathological examination of duodenal specimens revealed increased subserosal fibrous tissue and absent submucosal adipose tissue. None of the five CGL1 patients had gastrointestinal problems. Two patients with CGL4 developed hypertrophic cardiomyopathy (HCMP) and severe cardiac arrhythmia, only one patient with CGL1 had HCMP. Hyperinsulinemia was detected in one patient with CGL4 and three patients with CGL1, these three CGL1 patients also had acanthosis nigricans. Hepatic steatosis was detected in one patient with CGL4 and two patients with CGL1 by ultrasonography. In conclusion, these findings suggest that CGL4 patients should also be carefully followed up for gastrointestinal and cardiac manifestations.
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PMID:Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4. 3177 56