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Iminoglycinuria

MedGen UID:: 124342
•Concept ID:: C0268654
•: Disease or Syndrome

Synonym:	IMINOGLYCINURIA
SNOMED CT:	Iminoglycinuria (84121007)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	SLC36A2 (5q33.1)

Monarch Initiative:	MONDO:0009448
OMIM®:	242600
Orphanet:	ORPHA42062

Definition

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; 138500) (summary by Broer et al., 2008). Iminoglycinuria also occurs as part of the generalized amino aciduria of the Fanconi renotubular syndrome (134600). [from OMIM]

Clinical features

From HPO

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).

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Hydroxyprolinuria

MedGen UID:: 215298
•Concept ID:: C0948585
•: Finding

An increased concentration of 4-hydroxy-L-proline in the urine.

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Prolinuria

MedGen UID:: 1830245
•Concept ID:: C5779510
•: Finding

Level of proline in the urine anove the upper limit of normal.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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Abnormality of the eye

MedGen UID:: 1370071
•Concept ID:: C4316870
•: Anatomical Abnormality

Any abnormality of the eye, including location, spacing, and intraocular abnormalities.

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Abnormality of the eye
- Abnormality of the eye
Abnormality of the genitourinary system
Abnormality of the nervous system
- Intellectual disability

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVIminoglycinuria

Disorder of neutral amino acid transport
- Iminoglycinuria

Follow this link to review classifications for Iminoglycinuria in Orphanet.

Recent clinical studies

Etiology

A genome-wide association study of metabolic traits in human urine.

Suhre K, Wallaschofski H, Raffler J, Friedrich N, Haring R, Michael K, Wasner C, Krebs A, Kronenberg F, Chang D, Meisinger C, Wichmann HE, Hoffmann W, Völzke H, Völker U, Teumer A, Biffar R, Kocher T, Felix SB, Illig T, Kroemer HK, Gieger C, Römisch-Margl W, Nauck M
Nat Genet 2011 Jun;43(6):565-9. Epub 2011 May 15 doi: 10.1038/ng.837. PMID: 21572414

Apical transporters for neutral amino acids: physiology and pathophysiology.

Bröer S
Physiology (Bethesda) 2008 Apr;23:95-103. doi: 10.1152/physiol.00045.2007. PMID: 18400692

Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies.

Wilcken B, Smith A, Brown DA
J Pediatr 1980 Sep;97(3):492-7. doi: 10.1016/s0022-3476(80)80216-2. PMID: 7411317

Ontogeny of amino acid reabsorption in human kidney. Evidence from the homozygous infant with familial renal iminoglycinuria for multiple proline and glycine systems.

Lasley L, Scriver CR
Pediatr Res 1979 Jan;13(1):65-70. doi: 10.1203/00006450-197901000-00014. PMID: 432003

See all (4)

Diagnosis

Aminoacidurias: Clinical and molecular aspects.

Camargo SM, Bockenhauer D, Kleta R
Kidney Int 2008 Apr;73(8):918-25. Epub 2008 Jan 16 doi: 10.1038/sj.ki.5002790. PMID: 18200002

Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance.

Humbertclaude V, Rivier F, Roubertie A, Echenne B, Bellet H, Vallat C, Morin D
J Child Neurol 2001 Aug;16(8):622-3. doi: 10.1177/088307380101600820. PMID: 11510941

Iminoglycinuria: a benign type of inherited aminoaciduria.

Coşkun T, Ozalp I, Tokatli A
Turk J Pediatr 1993 Apr-Jun;35(2):121-5. PMID: 7504361

Review of Metabolic Screening Program of Children's Hospital, Vancouver, British Columbia. 1971--1977.

Wong LT, Hardwick DF, Applegarth DA, Davidson AG
Clin Biochem 1979 Oct;12(5):167-72. doi: 10.1016/s0009-9120(79)80083-1. PMID: 519848

Iminoglycinuria in a child in Czechoslovakia.

Blehová B, Păzoutová N, Hyánek J, Jirásek J
Humangenetik 1973 Jul 20;19(2):207-10. doi: 10.1007/BF00282197. PMID: 4744406

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Therapy

Behavioral and neurochemical effects of proline.

Wyse AT, Netto CA
Metab Brain Dis 2011 Sep;26(3):159-72. Epub 2011 Jun 4 doi: 10.1007/s11011-011-9246-x. PMID: 21643764

Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance.

Humbertclaude V, Rivier F, Roubertie A, Echenne B, Bellet H, Vallat C, Morin D
J Child Neurol 2001 Aug;16(8):622-3. doi: 10.1177/088307380101600820. PMID: 11510941

See all (2)

Prognosis

A Fukuyama type of congenital muscular dystrophy associated with atypical gyrate atrophy of the choroid and retina. A case report.

Mishima H, Hirata H, Ono H, Choshi K, Nishi Y, Fukuda K
Acta Ophthalmol (Copenh) 1985 Apr;63(2):155-9. doi: 10.1111/j.1755-3768.1985.tb01528.x. PMID: 4003043

Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies.

Wilcken B, Smith A, Brown DA
J Pediatr 1980 Sep;97(3):492-7. doi: 10.1016/s0022-3476(80)80216-2. PMID: 7411317

See all (2)

Clinical prediction guides

Isolation and function of the amino acid transporter PAT1 (slc36a1) from rabbit and discrimination between transport via PAT1 and system IMINO in renal brush-border membrane vesicles.

Miyauchi S, Abbot EL, Zhuang L, Subramanian R, Ganapathy V, Thwaites DT
Mol Membr Biol 2005 Nov-Dec;22(6):549-59. doi: 10.1080/09687860500421779. PMID: 16373326

Iminoglycinuria: a benign type of inherited aminoaciduria.

Coşkun T, Ozalp I, Tokatli A
Turk J Pediatr 1993 Apr-Jun;35(2):121-5. PMID: 7504361

Uptake of glycine by human kidney cortex.

Roth KS, Holtzapple P, Genel M, Segal S
Metabolism 1979 Jun;28(6):677-82. doi: 10.1016/0026-0495(79)90022-2. PMID: 449705

See all (3)

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Iminoglycinuria

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

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