Cases reported "Cystinuria"

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1/4. cerebellar ataxia with glutamic aciduria.

    We report a case of cystinuria and glutamic aciduria, presenting with progressive cerebellar manifestations. She had cerebellar type dysarthria and limb ataxia. head MRI revealed cerebellar atrophy. Urinary amino acid analysis showed excessive excretion of glutamate and the dibasic amino acids (cystine, arginine, lysine, and ornithine). cystine and glutamic acid are thought to be transported in a common membrane transport system. Reduction of glutamic acid and cystine in the cerebrospinal fluid was revealed. A relationship between cystinuria and cerebellar manifestation was discussed.
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2/4. Analysis of a 1-year-old cystinuric patient with recurrent renal stones.

    cystinuria is a hereditary disorder of cystine and dibasic amino acids (lysine, arginine, ornithine) transport across the luminal membrane of renal tubules and intestine, resulting in recurrent nephrolithiasis. cystine stones frequently occur in the second or third decade of life with an occasional occurrence in infancy and in old age. Herein is presented the case of a 1-year-old girl with cystinuria and recurrent urolithiasis; the genetic basis of the disease was investigated by mutational analysis of the SLC3A1 gene. The data show that the present patient has an increased cystine (923.08 microg/mL) level and was heterozygote for M467T mutation.
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3/4. Mutations of the basic amino acid transporter gene associated with cystinuria.

    To investigate the function of a basic and neutral amino acid transporter-like protein (rBAT) which is a candidate gene for cystinuria, we analysed the rBAT gene in cystinuric patients. Patient 1 is a compound heterozygote with mutations in the rBAT gene causing a glutamine-to-lysine transition at amino acid 268, and a threonine-to-alanine transition at amino acid 341, who inherited these alleles from his mother (E268K) and father (T341A), respectively. Injection of T341A and E268K mutant cRNAs into oocytes decreased transport activity to 53.9% and 62.5% of control (L-cystine transport activity in oocytes injected with wild-type rBAT cRNA), respectively. Co-injection of E268K and T341A into oocytes strongly decreased amino acid transport activity to 28% of control. On the other hand, co-injection of wild-type and mutant rBAT did not decrease transport activity. Furthermore, immunological studies have demonstrated that the reduction of amino acid transport is not due to a decrease in the amount of rBAT protein expressed in oocyte membranes. These results indicate that mutations in the rBAT gene are crucial disease-causing lesions in cystinuria. In addition, co-injection experiments suggest that rBAT may function as a transport activator or regulatory subunit by homo- or hetero-multimer complex formation.
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keywords = transport
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4/4. cystinuria: a new genetic variant.

    1. A family is reported with an unusual type of cystinuria. 2. The propositus presented with a cystine renal stone; the renal tubular reabsorption of cystine was grossly abnormal but the tubular reabsorption of ornithine, lysine and arginine was only slightly less than normal. 3. One of the children of the propositus escreted cystine and lysine in increased amounts typical of type II heterozygotes for cystinuria. 4. The renal transport defect in this family may represent one end of the spectrum of cystinuria or it may be a form akin to isolated hypercystinuria.
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keywords = transport
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