Hyperglycinuria

Common Name(s)

Hyperglycinuria

The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG; {242600}), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age ({3:Chesney, 2001}). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) (summary by {2:Broer et al., 2008}). A phenotype of combined glucosuria and glycinuria has been described (see {138070}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperglycinuria" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hyperglycinuria" returned 3 free, full-text research articles on human participants. First 3 results:

Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.
 

Author(s): Stefan Bröer, Charles G Bailey, Sonja Kowalczuk, Cynthia Ng, Jessica M Vanslambrouck, Helen Rodgers, Christiane Auray-Blais, Juleen A Cavanaugh, Angelika Bröer, John E J Rasko

Journal: J. Clin. Invest.. 2008 Dec;118(12):3881-92.

 

Iminoglycinuria (IG) is an autosomal recessive abnormality of renal transport of glycine and the imino acids proline and hydroxyproline, but the specific genetic defect(s) have not been determined. Similarly, although the related disorder hyperglycinuria (HG) without iminoaciduria ...

Last Updated: 31 Dec 1969

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Spongy degeneration of the white matter of the central nervous system associated with hyperglycinuria.
 

Author(s): D I Rushton

Journal: J. Clin. Pathol.. 1968 Jul;21(4):456-62.

 

Five infants from two families with the clinical features of hyperglycinaemia and hyperglycinuria are described. In four of these cases spongy degeneration of the central nervous system is associated with lipid-filled glial cells and retarded myelination. The origin of these changes ...

Last Updated: 31 Dec 1969

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HYPERGLYCINAEMIA AND HYPERGLYCINURIA IN A NEWBORN INFANT.
 

Author(s): H K VISSER, H W VEENSTRA, C PIK

Journal: Arch. Dis. Child.. 1964 Aug;39():397-402.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Hyperglycinuria" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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