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Urinary glycosaminoglycan excretion

MedGen UID:
871129
Concept ID:
C4025598
Finding
HPO: HP:0003541

Definition

Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit. [from HPO]

Conditions with this feature

Mucopolysaccharidosis, MPS-II
MedGen UID:
7734
Concept ID:
C0026705
Disease or Syndrome
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings. Age of onset, disease severity, and rate of progression vary significantly among affected males. In those with early progressive disease, CNS involvement (manifest primarily by progressive cognitive deterioration), progressive airway disease, and cardiac disease usually result in death in the first or second decade of life. In those with slowly progressive disease, the CNS is not (or is minimally) affected, although the effect of GAG accumulation on other organ systems may be early progressive to the same degree as in those who have progressive cognitive decline. Survival into the early adult years with normal intelligence is common in the slowly progressing form of the disease. Additional findings in both forms of MPS II include: short stature; macrocephaly with or without communicating hydrocephalus; macroglossia; hoarse voice; conductive and sensorineural hearing loss; hepatosplenomegaly; dysostosis multiplex; spinal stenosis; and carpal tunnel syndrome.
Mucopolysaccharidosis type 7
MedGen UID:
43108
Concept ID:
C0085132
Disease or Syndrome
Mucopolysaccharidosis type VII (MPS7) is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.
Hurler syndrome
MedGen UID:
39698
Concept ID:
C0086795
Disease or Syndrome
Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I. Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.

Professional guidelines

PubMed

Barnett AJ, Marks R
Australas J Dermatol 1975 Aug;16(2):45-54. doi: 10.1111/j.1440-0960.1975.tb00556.x. PMID: 12307706

Recent clinical studies

Etiology

Jones SA, Marsden D, Koutsoukos T, Sniadecki J, Tylee K, Phillippo S, Kakkis E
Mol Genet Metab 2020 Aug;130(4):255-261. Epub 2020 Jun 11 doi: 10.1016/j.ymgme.2020.06.004. PMID: 32563631
Liu S, Yu Y, Gao Y, Yang X, Pang Z
Urolithiasis 2016 Apr;44(2):185-90. Epub 2015 Aug 5 doi: 10.1007/s00240-015-0810-4. PMID: 26242466
Gallegos-Arreola MP, Machorro-Lazo MV, Flores-Martínez SE, Zúñiga-González GM, Figuera LE, González-Noriega A, Sánchez-Corona J
Arch Med Res 2000 Sep-Oct;31(5):505-10. doi: 10.1016/s0188-4409(00)00104-1. PMID: 11179586
McAuliffe AV, Fisher EJ, McLennan SV, Yue DK, Turtle JR
Diabet Med 1996 Aug;13(8):758-63. doi: 10.1002/(SICI)1096-9136(199608)13:8<758::AID-DIA160>3.0.CO;2-T. PMID: 8862953
Chuck AJ, Murphy J, Weiss JB, Grennan DM
Ann Rheum Dis 1986 Feb;45(2):162-6. doi: 10.1136/ard.45.2.162. PMID: 3947145Free PMC Article

Diagnosis

Derkacz A, Olczyk P, Jura-Poltorak A, Waluga-Kozlowska E, Olczyk K, Komosinska-Vassev K
J Physiol Pharmacol 2020 Dec;71(6) Epub 2021 Mar 13 doi: 10.26402/jpp.2020.6.03. PMID: 33727426
Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Muñoz V, Muenzer J
Pediatrics 2008 Feb;121(2):e377-86. doi: 10.1542/peds.2007-1350. PMID: 18245410
Whitley CB, Spielmann RC, Herro G, Teragawa SS
Mol Genet Metab 2002 Jan;75(1):56-64. doi: 10.1006/mgme.2001.3271. PMID: 11825064
Gallegos-Arreola MP, Machorro-Lazo MV, Flores-Martínez SE, Zúñiga-González GM, Figuera LE, González-Noriega A, Sánchez-Corona J
Arch Med Res 2000 Sep-Oct;31(5):505-10. doi: 10.1016/s0188-4409(00)00104-1. PMID: 11179586
Hurst RE, Parsons CL, Roy JB, Young JL
J Urol 1993 Jan;149(1):31-5. doi: 10.1016/s0022-5347(17)35990-6. PMID: 8417212

Therapy

Derkacz A, Olczyk P, Jura-Poltorak A, Waluga-Kozlowska E, Olczyk K, Komosinska-Vassev K
J Physiol Pharmacol 2020 Dec;71(6) Epub 2021 Mar 13 doi: 10.26402/jpp.2020.6.03. PMID: 33727426
Jones SA, Marsden D, Koutsoukos T, Sniadecki J, Tylee K, Phillippo S, Kakkis E
Mol Genet Metab 2020 Aug;130(4):255-261. Epub 2020 Jun 11 doi: 10.1016/j.ymgme.2020.06.004. PMID: 32563631
Rorije NMG, Olde Engberink RHG, Chahid Y, van Vlies N, van Straalen JP, van den Born BH, Verberne HJ, Vogt L
Anesthesiology 2018 Feb;128(2):352-360. doi: 10.1097/ALN.0000000000001989. PMID: 29206647
Liu S, Yu Y, Gao Y, Yang X, Pang Z
Urolithiasis 2016 Apr;44(2):185-90. Epub 2015 Aug 5 doi: 10.1007/s00240-015-0810-4. PMID: 26242466
Miebach E
Acta Paediatr Suppl 2005 Mar;94(447):58-60; discussion 57. doi: 10.1111/j.1651-2227.2005.tb02114.x. PMID: 15895714

Prognosis

Derkacz A, Olczyk P, Jura-Poltorak A, Waluga-Kozlowska E, Olczyk K, Komosinska-Vassev K
J Physiol Pharmacol 2020 Dec;71(6) Epub 2021 Mar 13 doi: 10.26402/jpp.2020.6.03. PMID: 33727426
Jones SA, Marsden D, Koutsoukos T, Sniadecki J, Tylee K, Phillippo S, Kakkis E
Mol Genet Metab 2020 Aug;130(4):255-261. Epub 2020 Jun 11 doi: 10.1016/j.ymgme.2020.06.004. PMID: 32563631
Budak YU, Huysal K, Guray A
Ital J Pediatr 2010 Feb 3;36:13. doi: 10.1186/1824-7288-36-13. PMID: 20181082Free PMC Article
Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Muñoz V, Muenzer J
Pediatrics 2008 Feb;121(2):e377-86. doi: 10.1542/peds.2007-1350. PMID: 18245410
Miebach E
Acta Paediatr Suppl 2005 Mar;94(447):58-60; discussion 57. doi: 10.1111/j.1651-2227.2005.tb02114.x. PMID: 15895714

Clinical prediction guides

Jones SA, Marsden D, Koutsoukos T, Sniadecki J, Tylee K, Phillippo S, Kakkis E
Mol Genet Metab 2020 Aug;130(4):255-261. Epub 2020 Jun 11 doi: 10.1016/j.ymgme.2020.06.004. PMID: 32563631
Rorije NMG, Olde Engberink RHG, Chahid Y, van Vlies N, van Straalen JP, van den Born BH, Verberne HJ, Vogt L
Anesthesiology 2018 Feb;128(2):352-360. doi: 10.1097/ALN.0000000000001989. PMID: 29206647
Liu S, Yu Y, Gao Y, Yang X, Pang Z
Urolithiasis 2016 Apr;44(2):185-90. Epub 2015 Aug 5 doi: 10.1007/s00240-015-0810-4. PMID: 26242466
Miebach E
Acta Paediatr Suppl 2005 Mar;94(447):58-60; discussion 57. doi: 10.1111/j.1651-2227.2005.tb02114.x. PMID: 15895714
Sarica K, Türkölmez K, Soygür T, Ozer G, Yaman MO, Baltaci S, Bedük Y, Müftüoğlu YZ
Eur Urol 1997;31(1):54-7. doi: 10.1159/000474418. PMID: 9032535

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