U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Dermatan sulfate excretion in urine

MedGen UID:
343207
Concept ID:
C1854774
Finding
Synonym: Excretion of dermatan sulfate in urine
 
HPO: HP:0008301

Definition

An increased concentration of dermatan sulfate in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDermatan sulfate excretion in urine

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 6
MedGen UID:
44514
Concept ID:
C0026709
Disease or Syndrome
Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).
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.
Mucopolysaccharidosis, MPS-I-H/S
MedGen UID:
88566
Concept ID:
C0086431
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.
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.
Mucopolysaccharidosis, type 10
MedGen UID:
1794274
Concept ID:
C5562064
Disease or Syndrome
Mucopolysaccharidosis type X (MPS10) is an autosomal recessive childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities (Verheyen et al., 2022).

Professional guidelines

PubMed

Vollebregt AAM, Hoogeveen-Westerveld M, Kroos MA, Oussoren E, Plug I, Ruijter GJ, van der Ploeg AT, Pijnappel WWMP
Dev Med Child Neurol 2017 Oct;59(10):1063-1070. Epub 2017 May 25 doi: 10.1111/dmcn.13467. PMID: 28543354
Wood T, Bodamer OA, Burin MG, D'Almeida V, Fietz M, Giugliani R, Hawley SM, Hendriksz CJ, Hwu WL, Ketteridge D, Lukacs Z, Mendelsohn NJ, Miller N, Pasquali M, Schenone A, Schoonderwoerd K, Winchester B, Harmatz P
Mol Genet Metab 2012 May;106(1):73-82. Epub 2012 Feb 10 doi: 10.1016/j.ymgme.2012.02.005. PMID: 22405600
Toma L, Dietrich CP, Nader HB
Lab Invest 1996 Dec;75(6):771-81. PMID: 8973472

Recent clinical studies

Etiology

Guffon N, Chowdary P, Teles EL, Hughes D, Hennermann JB, Huot-Marchand P, Faudot-Vernier E, Lacombe O, Fiquet A, Richard MP, Abitbol JL, Tallandier M, Hendriksz CJ
J Inherit Metab Dis 2022 Mar;45(2):340-352. Epub 2021 Dec 30 doi: 10.1002/jimd.12467. PMID: 34910312
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091
Lin WD, Lin SP, Wang CH, Hwu WL, Chuang CK, Lin SJ, Tsai Y, Chen CP, Tsai FJ
Clin Chim Acta 2008 Aug;394(1-2):89-93. Epub 2008 Apr 27 doi: 10.1016/j.cca.2008.04.014. PMID: 18486607
Sulikowska B, Olejniczak H, Muszyńska M, Odrowaz-Sypniewska G, Gaddi A, Savini C, Cicero AF, Laghi L, Manitius J
Am J Nephrol 2006;26(6):621-8. Epub 2006 Dec 21 doi: 10.1159/000098195. PMID: 17191008
van der Pijl JW, van der Woude FJ, Geelhoed-Duijvestijn PH, Frölich M, van der Meer FJ, Lemkes HH, van Es LA
J Am Soc Nephrol 1997 Mar;8(3):456-62. doi: 10.1681/ASN.V83456. PMID: 9071714

Diagnosis

Langereis EJ, Wagemans T, Kulik W, Lefeber DJ, van Lenthe H, Oussoren E, van der Ploeg AT, Ruijter GJ, Wevers RA, Wijburg FA, van Vlies N
PLoS One 2015;10(9):e0138622. Epub 2015 Sep 25 doi: 10.1371/journal.pone.0138622. PMID: 26406883Free PMC Article
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091
Perrin L, Fenneteau O, Ilharreborde B, Capri Y, Gérard M, Quoc EB, Passemard S, Ghoumid J, Caillaud C, Froissart R, Tabet AC, Lebon S, El Ghouzzi V, Mazda K, Verloes A
Eur J Med Genet 2012 Mar;55(3):157-62. Epub 2012 Jan 25 doi: 10.1016/j.ejmg.2012.01.001. PMID: 22330346
Byers S, Rozaklis T, Brumfield LK, Ranieri E, Hopwood JJ
Mol Genet Metab 1998 Dec;65(4):282-90. doi: 10.1006/mgme.1998.2761. PMID: 9889015
Piraud M, Boyer S, Mathieu M, Maire I
Clin Chim Acta 1993 Nov 30;221(1-2):171-81. doi: 10.1016/0009-8981(93)90031-x. PMID: 8149634

Therapy

Guffon N, Chowdary P, Teles EL, Hughes D, Hennermann JB, Huot-Marchand P, Faudot-Vernier E, Lacombe O, Fiquet A, Richard MP, Abitbol JL, Tallandier M, Hendriksz CJ
J Inherit Metab Dis 2022 Mar;45(2):340-352. Epub 2021 Dec 30 doi: 10.1002/jimd.12467. PMID: 34910312
Jura-Półtorak A, Olczyk P, Chałas-Lipka A, Komosińska-Vassev K, Kuźnik-Trocha K, Winsz-Szczotka K, Ivanova D, Kiselova-Kaneva Y, Krysik K, Telega A, Olczyk K
Arch Physiol Biochem 2022 Apr;128(2):507-513. Epub 2019 Dec 9 doi: 10.1080/13813455.2019.1697889. PMID: 31815550
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091
Sulikowska B, Olejniczak H, Muszyńska M, Odrowaz-Sypniewska G, Gaddi A, Savini C, Cicero AF, Laghi L, Manitius J
Am J Nephrol 2006;26(6):621-8. Epub 2006 Dec 21 doi: 10.1159/000098195. PMID: 17191008
van der Pijl JW, van der Woude FJ, Geelhoed-Duijvestijn PH, Frölich M, van der Meer FJ, Lemkes HH, van Es LA
J Am Soc Nephrol 1997 Mar;8(3):456-62. doi: 10.1681/ASN.V83456. PMID: 9071714

Prognosis

Vollebregt AAM, Hoogeveen-Westerveld M, Kroos MA, Oussoren E, Plug I, Ruijter GJ, van der Ploeg AT, Pijnappel WWMP
Dev Med Child Neurol 2017 Oct;59(10):1063-1070. Epub 2017 May 25 doi: 10.1111/dmcn.13467. PMID: 28543354
Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Leão Teles E, Sá Miranda MC, Hopwood JJ
Hum Mutat 2007 Sep;28(9):897-903. doi: 10.1002/humu.20534. PMID: 17458871
Barone R, Parano E, Trifiletti RR, Fiumara A, Pavone P
J Neurol Sci 2002 Mar 30;195(2):171-5. doi: 10.1016/s0022-510x(02)00014-x. PMID: 11897250
Winter P, Schoeneich G, Ganter K, Winter S, Hesse A
Int Urol Nephrol 1998;30(2):113-21. doi: 10.1007/BF02550563. PMID: 9607878
Winter P, Ganter K, Leppin U, Schoeneich G, Hesse A
Urol Res 1995;23(6):401-5. doi: 10.1007/BF00698743. PMID: 8788280

Clinical prediction guides

Lato-Kariakin E, Kuźnik-Trocha K, Gruenpeter A, Komosińska-Vassev K, Olczyk K, Winsz-Szczotka K
Biomolecules 2023 Dec 2;13(12) doi: 10.3390/biom13121737. PMID: 38136608Free PMC Article
Wang D, Shukla C, Liu X, Schoeb TR, Clarke LA, Bedwell DM, Keeling KM
Mol Genet Metab 2010 Jan;99(1):62-71. doi: 10.1016/j.ymgme.2009.08.002. PMID: 19751987Free PMC Article
Lin WD, Lin SP, Wang CH, Hwu WL, Chuang CK, Lin SJ, Tsai Y, Chen CP, Tsai FJ
Clin Chim Acta 2008 Aug;394(1-2):89-93. Epub 2008 Apr 27 doi: 10.1016/j.cca.2008.04.014. PMID: 18486607
Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Leão Teles E, Sá Miranda MC, Hopwood JJ
Hum Mutat 2007 Sep;28(9):897-903. doi: 10.1002/humu.20534. PMID: 17458871
Byers S, Rozaklis T, Brumfield LK, Ranieri E, Hopwood JJ
Mol Genet Metab 1998 Dec;65(4):282-90. doi: 10.1006/mgme.1998.2761. PMID: 9889015

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...