Glycinuria, a hereditary disorder associated with nephrolithiasis

Vries, A. De; Kochwa, Shaul; Lazebnik, J.; M, Frank; Djaldetti, Meir

doi:10.1016/0002-9343(57)90320-0

Cited by 101 publications

(9 citation statements)

References 26 publications

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“…One subject (A,III,-12) has only one hyperglycinuric parent; he is possibly heteroallelic for two different mutations at one locus controlling the imino-glycine transport system. in each of the pedigrees, reminiscent of a similar trait found in an Ashkenazi-Jewish pedigree by DeVries, Kochwa, Lazebnik, Frank, and Djaldetti (16). In each of our pedigrees a second trait is represented by abnormal urinary excretion of glycine and the imino acids, proline, and hydroxyproline.…”

Section: Resultssupporting

confidence: 69%

Renal tubular transport of proline, hydroxyproline, and glycine

Scriver¹

1968

J. Clin. Invest.

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Section: Resultssupporting

confidence: 69%

Renal tubular transport of proline, hydroxyproline, and glycine

Scriver¹

1968

J. Clin. Invest.

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“…Glycinuria is also observed in hereditary hypophosphatemic rickets (322) and in some pedigrees with iminoglycinuria in heterozygotes. A specific renal glycinuria was observed by De Vries et al (91) associated with renal stones. Interestingly, glycinuria may be associated with hypertension (276).…”

Section: Glycinuria (Omim 138500)mentioning

confidence: 80%

Amino Acid Transport Across Mammalian Intestinal and Renal Epithelia

Bröer

2008

Physiological Reviews

831

671

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The transport of amino acids in kidney and intestine is critical for the supply of amino acids to all tissues and the homeostasis of plasma amino acid levels. This is illustrated by a number of inherited disorders affecting amino acid transport in epithelial cells, such as cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, dicarboxylic aminoaciduria, and some other less well-described disturbances of amino acid transport. The identification of most epithelial amino acid transporters over the past 15 years allows the definition of these disorders at the molecular level and provides a clear picture of the functional cooperation between transporters in the apical and basolateral membranes of mammalian epithelial cells. Transport of amino acids across the apical membrane not only makes use of sodium-dependent symporters, but also uses the proton-motive force and the gradient of other amino acids to efficiently absorb amino acids from the lumen. In the basolateral membrane, antiporters cooperate with facilitators to release amino acids without depleting cells of valuable nutrients. With very few exceptions, individual amino acids are transported by more than one transporter, providing backup capacity for absorption in the case of mutational inactivation of a transport system.

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“…In two types of classical cystinuria [18], heterozygotes have modestly elevated rates of urinary excretion of cystine and of the three dibasic amino acids [15,20]. In hereditary renal iminoglycinuria [26], the carriers have a modest hyperglycinuria, but no iminoaciduria, a finding recognized initially by DEVRIES et al [7] as a dominantly inherited trait. In such cases, careful study of the presumed heterozygote provided information of considerable importance about the trait in question.…”

Section: Discussionmentioning

confidence: 99%