Cerebrotendinous Xanthomatosis, A Rare Metabolic Disease
نویسندگان
چکیده
منابع مشابه
Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations.
This mini-review deals with a new appraisal of cerebrotendinous xanthomatosis. In addition to neurologic symptoms, patients with cerebrotendinous xanthomatosis develop cataracts, diarrhea, Achilles tendon xanthoma, atherosclerotic vascular disease, and many other abnormalities. Although the pathophysiology of the disease is not completely understood, excess production and consequent accumulatio...
متن کاملCerebrotendinous xanthomatosis: a treatable hereditary neuro‐metabolic disease
Cerebrotendinous xanthomatosis is a rare autosomal recessive hereditary disease that is caused by a mutation in the gene encoding the mitochondrial enzyme sterol 27hydroxylase (CYP27). The CYP27 gene is located on chromosome 2q35-qter and is responsible for the conversion of cholesterol into cholic and chenodeoxycholic acid. Cerebrotendinous xanthomatosis results in increased levels of serum ch...
متن کاملCerebrotendinous xanthomatosis: a treatable neurodegenerative disease.
Cerebrotendinous xanthomatosis is one of the rare forms of treatable hereditary neurodegenerative disorders. It is due to a defect in hydroxylation of cholesterol side chain that impairs oxidative cleavage of cholesterol leading to excess accumulation of cholesterol. Here we present such a case which presented to us with recurrent generalized tonic clonic seizures. He is under treatment for the...
متن کاملCerebrotendinous xanthomatosis
Cerebrotendinous Xanthomatosis (CTX; OMIM #213700) is a rare lipid storage metabolic disease with autosomal recessive inheritance. It is characterized by deficiency of mitochondrial sterol 27-hydroxylase (CYP27) which is a key enzyme in bile acid biosynthesis. The enzyme converts cholesterol into bile acids hence deficiency results in abnormal deposition of cholesterol and cholestenol in multip...
متن کاملCerebrotendinous xanthomatosis.
Cerebrotendinous xanthomatosis is a rare genetic metabolic disorder of cholesterol and bile acid metabolism that results in systemic and neurologic abnormalities. Typically, the disease begins in infancy with chronic diarrhoea. Cataracts become evident in childhood or adolescence, and xanthomata develop in the second and third decades of life. Significant neurologic impairment also occurs; this...
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ژورنال
عنوان ژورنال: Journal of Medicine
سال: 2012
ISSN: 2075-5384,1997-9797
DOI: 10.3329/jom.v13i1.8690