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)

Cerebrotendinous Xanthomatosis (CTX) is a rare familial disease characterized by tendon-xanthomas, cataracts, progressive cerebellar ataxia, dementia and an elevation of serum cholestanol with normal levels of cholesterol. Although the pathogenesis of CTX is not fully understood, increment of cholestanol is suggested one of the major metabolic derangements of the disease. Recently, the LDL-apheresis has been developed as a new therapeutical equipment in the field of hyperlipidemia and been widely used to reduce the levels of LDL-cholesterol by selective LDL adsorption. From the point of view that cholestanol is involved mainly in LDL-cholesterol (1.019 less than d less than 1.063), we used this LDL-apheresis in the aim of reducing the cholestanol in 58 years old woman with typical sign and symptoms of CTX. The levels of serum cholestanol and cholesterol before the treatment with LDL-apheresis, were 10.7 micrograms/ml and 175 mg/dl respectively. Also the ratio of cholestanol/cholesterol indicated 0.63. By the first procedure of apheresis, the level of cholestanol was markedly decreased to 5.2 micrograms/ml (50%). Several LDL-apheresis treatments were carried out once a month. During 5 months treatments, neurological deterioration was arrested, dementia which included disorientation and recent-memory loss, cleaned a little. Although the xanthomas did not decrease in size, this patients was better oriented to person, place, time and was able to speak rationally, 2nd her cerebellar dysfunction revealed improvement. From our new experiments-we believe that the LDL-apheresis offers the strong hope of preventing the progress on cerebrotendinous xanthomatosis.
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PMID:[Effect of LDL-apheresis on a case of Cerebrotendinous Xanthomatosis]. 275 48

Citrin, encoded by SLC25A13, is a liver-type mitochondrial aspartate-glutamate carrier (AGC), of which deficiency, in autosomal recessive trait, causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). NICCD patients have jaundice, hypoproteinemia, hypoglycemia, galactosemia, growth retardation, fatty liver and multiple aminoacidemia including citrulline, methionine, threonine and tyrosine. Some of the neonates who have experienced NICCD suffer from severe CTLN2 more than 10 years or several decades later. In CTLN2, neuropsychotic symptoms such as disorientation, aberrant behavior, coma and death are observed. Laboratory findings reveal hyperammonemia, citrullinemia, fatty liver and liver-specific decrease in a urea cycle enzyme, argininosuccinate synthetase (ASS). In some cases, hyperlipidemia, pancreatitis and hepatoma are accompanied with CTLN2. Citrin as a liver-type AGC plays a role in supplying aspartate to the cytosol for urea, protein and nucleotide synthesis by exchanging mitochondrial aspartate for cytosolic glutamate and proton, and transporting cytosolic NADH reducing equivalent to mitochondria as a member of malate aspartate shuttle essential for aerobic glycolysis. AGC is also important for gluconeogenesis from lactate. Although it is difficult to explain pathogenesis of the symptoms such as cholestasis in NICCD and liver-specific decrease of ASS protein in CTLN2 from the functions of the AGC, some are understandable by the loss of citrin functions. Many CTLN2 patients have been treated with a low protein and high carbohydrate diet and glycerol at the hyperammonemic coma. We argue that those treatments may result in fatty liver, hyperlipidemia, hyperammonemia and even death due to loss of the citrin functions. Loss of citrin first cause deficiency of aspartate in the cytosol, which results in an increase in cytosolic NADH/NAD(+) ratio and then activation of fatty acid synthesis pathway to compensate the aberrant ratio. This follows inhibition of fatty acid oxidation. The peculiar fondness for food of CTLN2 patients who like protein and dislike carbohydrate and sweets may be related to their metabolic requirements.
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PMID:Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier. 1619 99

Aborted sudden cardiac death (SCD) has not been reported as initial manifestation of cardiac involvement in metabolic myopathy (MM). A 20-year-old female with a previous history of three syncopes, hyperhidrosis, and recurrent tick bites experienced aborted SCD. Her mother presented with MM, and a history of pituitary adenoma, nephroptosis, arterial hypertension, depression, migraine, goiter, pancreatitis, osteoporosis, hyperhidrosis, multiple muscle ruptures, and hyperlipidemia. After a few days of disorientation and amnesia, the young female recovered completely. Clinical neurological examination was noticeable for partial ophthalmoparesis and mild hyperprolactinemia. She received an implantable cardioverter defibrillator, which did not discharge so far. Recurrent syncopes and aborted SCD may be the initial manifestation of MM with multiple organ involvement. The family history is important in cases with aborted SCD to guide the diagnostic work-up. Phenotypic heterogeneity between the family members may be an indicator of MM.
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PMID:Aborted sudden cardiac death and a mother with suspected metabolic myopathy. 2518 45

Angioedema is characterized by marked swelling of the subcutaneous or submucosal tissue and may affect various parts of the body, including the face, mouth, and extremities. Angioedema has specifically been associated with the use of several antipsychotic agents, including clozapine, olanzapine, iloperidone, haloperidol, quetiapine, paliperidone, ziprasidone, risperidone, and chlorpromazine. A 67-year-old African American male with a past medical history significant for hypertension, coronary artery disease requiring stent placement, mitral insufficiency, hyperlipidemia, tobacco use disorder, and schizophrenia presented with altered mental status and disorientation in the setting of clozapine nonadherence, which prompted acute hospitalization for clozapine reinitiation. During clozapine titration, the patient developed edema, erythema, and pruritus on his face and arms along with lip swelling characteristic of angioedema. Upon discontinuation of clozapine, the patient was trialed on several other antipsychotic medications to help manage acute psychosis and subsequently developed angioedema symptoms with trials of both olanzapine and quetiapine. Following these 3 distinct events of angioedema, the clinical decision was made to no longer trial atypical antipsychotics for the patient, and loxapine was cautiously initiated. The patient responded well to loxapine and continued to tolerate loxapine therapy for years. This case report identifies angioedema cross-reaction linked with 3 second-generation antipsychotics. Given the potentially life-threatening nature of angioedema, awareness of recurrent angioedema should be undertaken when trialing antipsychotics following an episode of angioedema correlated to antipsychotic use, particularly when trialing antipsychotics from the same generation and with similar chemical structures.
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PMID:Cross-reaction of angioedema with clozapine, olanzapine, and quetiapine: A case report. 3153 73