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Heparan sulfate excretion in urine

MedGen UID:
340721
Concept ID:
C1854827
Finding
Synonym: Excretion of heparan sulfate in urine
 
HPO: HP:0002159

Definition

An increased concentration of heparan sulfates in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHeparan 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 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.
Mucopolysaccharidosis, MPS-III-A
MedGen UID:
39264
Concept ID:
C0086647
Disease or Syndrome
Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.
Mucopolysaccharidosis, MPS-III-B
MedGen UID:
88601
Concept ID:
C0086648
Disease or Syndrome
Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.
Mucopolysaccharidosis, MPS-III-C
MedGen UID:
39477
Concept ID:
C0086649
Disease or Syndrome
Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.
Mucopolysaccharidosis, MPS-III-D
MedGen UID:
88602
Concept ID:
C0086650
Disease or Syndrome
Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.
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.
Congenital disorder of deglycosylation 1
MedGen UID:
989503
Concept ID:
CN306977
Disease or Syndrome
Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously resolve in childhood, and a complex hyperkinetic movement disorder that can include choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements. About half of affected individuals will develop clinical seizures. Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, constipation, scoliosis, and peripheral neuropathy.

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
Martins JR, Gadelha ME, Fonseca SM, Sampaio LO, De L Pontes PA, Dietrich CP, Nader HB
Otolaryngol Head Neck Surg 2000 Jan;122(1):115-8. doi: 10.1016/S0194-5998(00)70158-6. PMID: 10629497
Toma L, Dietrich CP, Nader HB
Lab Invest 1996 Dec;75(6):771-81. PMID: 8973472

Recent clinical studies

Etiology

Khan SA, Nidhi F, Leal AF, Celik B, Herreño-Pachón AM, Saikia S, Benincore-Flórez E, Ago Y, Tomatsu S
Adv Clin Chem 2024;122:1-52. Epub 2024 Jul 23 doi: 10.1016/bs.acc.2024.06.011. PMID: 39111960
Dissayabutra T, Kalpongnukul N, Chindaphan K, Srisa-Art M, Ungjaroenwathana W, Kaewwongse M, Iampenkhae K, Tosukhowong P
PLoS One 2019;14(3):e0213180. Epub 2019 Mar 7 doi: 10.1371/journal.pone.0213180. PMID: 30845174Free PMC Article
Zampini L, Padella L, Marchesiello RL, Santoro L, Monachesi C, Giovagnoni A, Catassi C, Gabrielli O, Coppa GV, Galeazzi T
Clin Chim Acta 2017 Jan;464:165-169. Epub 2016 Nov 16 doi: 10.1016/j.cca.2016.11.024. PMID: 27865974
Lepedda AJ, De Muro P, Capobianco G, Formato M
J Diabetes Complications 2017 Jan;31(1):149-155. Epub 2016 Oct 17 doi: 10.1016/j.jdiacomp.2016.10.013. PMID: 27842978
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091

Diagnosis

Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M
Mol Genet Metab 2019 Sep-Oct;128(1-2):68-74. Epub 2019 May 9 doi: 10.1016/j.ymgme.2019.05.005. PMID: 31104888
Lepedda AJ, De Muro P, Capobianco G, Formato M
J Diabetes Complications 2017 Jan;31(1):149-155. Epub 2016 Oct 17 doi: 10.1016/j.jdiacomp.2016.10.013. PMID: 27842978
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
Bodamer OA, Giugliani R, Wood T
Mol Genet Metab 2014 Sep-Oct;113(1-2):34-41. Epub 2014 Jul 16 doi: 10.1016/j.ymgme.2014.07.013. PMID: 25127543

Therapy

Lau HA, Viskochil D, Tanpaiboon P, Lopez AG, Martins E, Taylor J, Malkus B, Zhang L, Jurecka A, Marsden D
Mol Genet Metab 2022 May;136(1):28-37. Epub 2022 Mar 9 doi: 10.1016/j.ymgme.2022.03.002. PMID: 35331634
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
Dissayabutra T, Kalpongnukul N, Chindaphan K, Srisa-Art M, Ungjaroenwathana W, Kaewwongse M, Iampenkhae K, Tosukhowong P
PLoS One 2019;14(3):e0213180. Epub 2019 Mar 7 doi: 10.1371/journal.pone.0213180. PMID: 30845174Free PMC Article
Hahn RG, Zdolsek M, Hasselgren E, Zdolsek J, Björne H
Br J Clin Pharmacol 2019 Jun;85(6):1303-1311. Epub 2019 Mar 28 doi: 10.1111/bcp.13897. PMID: 30756411Free PMC Article
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091

Prognosis

Lepedda AJ, De Muro P, Capobianco G, Formato M
J Diabetes Complications 2017 Jan;31(1):149-155. Epub 2016 Oct 17 doi: 10.1016/j.jdiacomp.2016.10.013. PMID: 27842978
Bodamer OA, Giugliani R, Wood T
Mol Genet Metab 2014 Sep-Oct;113(1-2):34-41. Epub 2014 Jul 16 doi: 10.1016/j.ymgme.2014.07.013. PMID: 25127543
de Ruijter J, Ijlst L, Kulik W, van Lenthe H, Wagemans T, van Vlies N, Wijburg FA
J Inherit Metab Dis 2013 Mar;36(2):271-9. Epub 2012 Sep 12 doi: 10.1007/s10545-012-9535-5. PMID: 22968582
Aregger F, Pilop C, Uehlinger DE, Brunisholz R, Carrel TP, Frey FJ, Frey BM
J Thorac Cardiovasc Surg 2010 Mar;139(3):692-700. doi: 10.1016/j.jtcvs.2009.11.015. PMID: 20176211
Mitsuhashi H, Tsukada Y, Ono K, Yano S, Naruse T
Clin Nephrol 1993 May;39(5):231-8. PMID: 8513598

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
Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M
Mol Genet Metab 2019 Sep-Oct;128(1-2):68-74. Epub 2019 May 9 doi: 10.1016/j.ymgme.2019.05.005. PMID: 31104888
Dissayabutra T, Kalpongnukul N, Chindaphan K, Srisa-Art M, Ungjaroenwathana W, Kaewwongse M, Iampenkhae K, Tosukhowong P
PLoS One 2019;14(3):e0213180. Epub 2019 Mar 7 doi: 10.1371/journal.pone.0213180. PMID: 30845174Free PMC Article
Lepedda AJ, De Muro P, Capobianco G, Formato M
J Diabetes Complications 2017 Jan;31(1):149-155. Epub 2016 Oct 17 doi: 10.1016/j.jdiacomp.2016.10.013. PMID: 27842978
Komosinska-Vassev K, Blat D, Olczyk P, Szeremeta A, Jura-Półtorak A, Winsz-Szczotka K, Klimek K, Olczyk K
Clin Biochem 2014 Sep;47(13-14):1341-3. Epub 2014 Jun 20 doi: 10.1016/j.clinbiochem.2014.06.012. PMID: 24956269

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