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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).
 
Gene (location): 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).
Hydroxyprolinuria
MedGen UID:
215298
Concept ID:
C0948585
Finding
An increased concentration of 4-hydroxy-L-proline in the urine.
Prolinuria
MedGen UID:
1830245
Concept ID:
C5779510
Finding
Level of proline in the urine anove the upper limit of normal.
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.
Abnormality of the eye
MedGen UID:
1370071
Concept ID:
C4316870
Anatomical Abnormality
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIminoglycinuria
Follow this link to review classifications for Iminoglycinuria in Orphanet.

Recent clinical studies

Etiology

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
Bröer S
Physiology (Bethesda) 2008 Apr;23:95-103. doi: 10.1152/physiol.00045.2007. PMID: 18400692
Wilcken B, Smith A, Brown DA
J Pediatr 1980 Sep;97(3):492-7. doi: 10.1016/s0022-3476(80)80216-2. PMID: 7411317
Lasley L, Scriver CR
Pediatr Res 1979 Jan;13(1):65-70. doi: 10.1203/00006450-197901000-00014. PMID: 432003

Diagnosis

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
Coşkun T, Ozalp I, Tokatli A
Turk J Pediatr 1993 Apr-Jun;35(2):121-5. PMID: 7504361
Wilcken B, Smith A, Brown DA
J Pediatr 1980 Sep;97(3):492-7. doi: 10.1016/s0022-3476(80)80216-2. PMID: 7411317
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
Blehová B, Păzoutová N, Hyánek J, Jirásek J
Humangenetik 1973 Jul 20;19(2):207-10. doi: 10.1007/BF00282197. PMID: 4744406

Therapy

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
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

Prognosis

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

Clinical prediction guides

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

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