U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Glucoglycinuria

MedGen UID:
78686
Concept ID:
C0268536
Disease or Syndrome
Synonym: GLUCOGLYCINURIA
SNOMED CT: Glucoglycinuria (9111008)
 
Monarch Initiative: MONDO:0007673
OMIM®: 138070

Clinical features

From HPO
Glycosuria
MedGen UID:
42267
Concept ID:
C0017979
Finding
An increased concentration of glucose in the urine.
Hyperglycinuria
MedGen UID:
107456
Concept ID:
C0543541
Disease or Syndrome
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 (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).

Recent clinical studies

Etiology

Bartsocas CS, Crawford JD
Birth Defects Orig Artic Ser 1974;10(4):118-26. PMID: 4377865

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...