Hyperglycinuria

Description

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

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperglycinuria

  • Seizures
  • Cataract
  • Hypertension
  • Microphthalmia
  • Tachycardia
  • Syncope
  • Nephrolithiasis
  • Glycosuria
  • Hyperglycinuria
  • Calcium oxalate nephrolithiasis

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Hyperglycinuria Is also known as glycinuria with or without oxalate nephrolithiasis, glycinuria with or without oxalate urolithiasis, iminoglycinuria type ii.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hyperglycinuria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
34 %
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

SGSH, SLC2A1, SPR, NPC2, CBS, APTX, COQ8A, PDSS1, MMAA, MMAB, LMBRD1, PDSS2, MMACHC, MMADHC, COQ2, COQ9, CYP27A1, HGSNAT, DBT, DDC , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
34 %
Hartnup disorder (sequence analysis of SLC6A19 gene).

By CGC Genetics (Portugal).

SLC6A19
Specificity
100 %
Genes
34 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)

View the complete list with 386 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
34 %
Ataxia.

By MGZ Medical Genetics Center (Germany).

SACS, SLC1A3, SLC25A15, SLC2A1, SLC2A10, CACNA1A, CACNA1C, CACNB4, APTX, SLC52A3, COQ8A, TACO1, DARS2, TTC19, C12orf65, DBT, SLC6A19, SLC52A2, PRRT2, SETX , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
34 %
Episodic Ataxia and Phenocopies.

By MGZ Medical Genetics Center (Germany).

SLC1A3, SLC22A5, SLC25A15, SLC2A1, CACNA1A, CACNA1C, CACNB4, ABHD5, CPT2, DARS2, DBT, SLC6A19, PRRT2, PNPLA2, ETFA, ETFB, ETFDH, IVD, KCNA1, KCNA4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
Hartnup disorder (SLC6A19).

By VU University Medical Center Metabolic Unit, PX 1X 009 (Netherlands).

SLC6A19
Specificity
100 %
Genes
34 %

We have 13 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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