Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a kind of inborn errors of metabolism, with the main clinic manifestations of jaundice, hepatomegaly, and abnormal liver function indices. As a mitochondrial solute carrier protein, citrin plays important roles in aerobic glycolysis, gluconeogenesis, urea cycle, and protein and nucleotide syntheses. Therefore citrin deficiency causes various and complicated metabolic disturbances, such as hypoglycemia, hyperlactic acidemia, hyperammonemia, hypoproteinemia, hyperlipidemia, and galactosemia. This paper reported a case of NICCD confirmed by mutation analysis of SLC25A13, the gene encoding citrin. The baby (male, 6 months old) was referred to the First Affiliated Hospital with the complaint of jaundice of the skin and sclera, which it had suffered from for nearly 6 months. Physical examination showed obvious jaundice and a palpable liver 5 cm below the right subcostal margin. Liver function tests revealed elevated enzymatic activities, like GGT, ALP, AST, and ALT, together with increased levels of TBA, bilirubin (especially conjugated bilirubin), and decreased levels of total protein/albumin and fibrinogen. Blood levels of ammonia, lactate, cholesterol, and triglyceride were also increased, and in particular, the serum AFP level reached 319,225.70 microg/L, a extremely elevated value that has rarely been found in practice before. Tandem mass analysis of a dried blood sample revealed increased levels of free fatty acids and tyrosine, methionine, citrulline, and threonine as well. UP-GC-MS analysis of the urine sample showed elevated galactose and galactitol. The baby was thus diagnosed with suspected NICCD based on the findings. It was then treated with oral arginine and multiple vitamins (including fat-soluble vitamins A, D, E, and K), and was fed with lactose-free and medium-chain fatty acids enriched formula instead of breast feeding. After half a month of treatment, the jaundice disappeared, and the laboratory findings, including liver function indices, blood levels of ammonia, lactate and AFP, were returned to normal level. The baby was followed up for 6 months. It developed well, and the abnormal laboratory findings, including MS-MS and UP-GC-MS analysis results, have been corrected, except a slightly elevated lactate level sometimes. SLC25A13 gene mutation analysis for the patient revealed a compound heterozygote of mutation 851del4 and 1638ins23 and therefore NICCD was definitely diagnosed.
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PMID:[A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]. 1661 6

Hyperlipidemic ocular lesions are described for Watanabe heritable hyperlipidemic (WHHL) rabbits. Male WHHL rabbits 8 months old exhibited serum hyperlipidemia and ophthalmoscopically yellowish-white lesions along the corneoscleral junction and in the iris. Histopathologically, foamy macrophages aggregated in the stroma of the cornea, iris, and ciliary body were observed. These findings have been interpreted as lipid keratopathy. In addition, multiple clusters of a large number of foamy macrophages occurred throughout the choroid and sclera in association with the blood vessels. The lesions in the choroid and sclera could not be detected ophthalmoscopy, yet were much more prominent than those in the cornea, iris, and ciliary body, suggesting greater involvement and earlier onset of lipidosis at these sites associated with hyperlipidemia in WHHL rabbits.
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PMID:Ocular lesions in Watanabe heritable hyperlipidemic rabbits. 1663 26

Our patient is a 67-year-old male with a past medical history significant for hypertension and hyperlipidemia came to a hospital with hemoptysis. He was also having cough and shortness of breath for the last 1 month. He said that his hemoptysis was about 1 cup per day mixed with yellowish sputum. He noticed around 20 pounds of weight loss in the last 1 month. He also complained of night sweats but had no fever. He had no history of travel outside the USA. He has never been incarcerated before, but he endorsed that his son has been to Jail before and he visited him twice a year in patient's home. But he also said that his son has never been diagnosed with TB. He smoked 1.5 packs per day for the last 50 years and quit smoking 2 months ago. His medication include hydrochlorothiazide, lisinopril, gabapentin, aspirin and trazodone. On examination, vital signs were within the normal range except a hearty rate of 106 beats/minute. He had slightly pale conjunctiva, non-icteric sclera and had wet tongue and buccal mucosa. There was decreased air entry with crepitations in the right side of the posterior chest but no wheezes or rales. No peripheral lymphadenopathy, no peripheral edema or sign of fluid collection in the abdomen. Chest x ray showed multiple cavitary lesion in the right upper lobe area. CT scan of the chest with PE protocol showed pulmonary venous partial thrombosis in the right upper lobe. Multiple cavitary lesions with hilar and mediastinal lymphadenopathy. There are also smaller nodular lesions in the left chest too. Small right pleural effusion with multiple calcified granulomata in the left upper lobe. QuantiFERON gold test was found to be positive. Sputum AFB smear was found to be strongly positive and it is sensitive to rifampin. Echocardiography showed no valvular lesions with preserved ejection fraction (>65%) and normal right ventricular size and normal right ventricular systolic pressure. Liver enzymes and renal function tests were found within the normal limit. HIV test was negative. Patient was started with intensive phase anti-tuberculosis treatment with rifampin, isoniazid, ethambutol, pyrazinamide with vitamin B6. He was also started with anticoagulation with heparin and warfarin considering the tuberculosis being the cause of the pulmonary vein thrombosis. Patient was also given supportive treatment and he made a gradual improvement and was discharged with anti-tuberculosis treatment and warfarin. Patient needed to be placed on a higher dose of warfarin as it was difficult to keep him therapeutic with lower doses. He was also advised to follow with infectious disease and anticoagulation clinic. Patient was found to have a significant increase in liver enzymes and bilirubin on follow up and the anti-TB medications were stopped to be restarted one by one with a follow up of his liver enzymes and liver function tests. He was also continued with warfarin.
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PMID:Pulmonary vein thrombosis secondary to tuberculosis in a non-HIV infected patient. 3056 51