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Mucopolysaccharidosis 1S


Mucopolysaccharidosis 5 is nowadays referred to as mucopolysaccharidosis 1S or Scheie syndrome.


  • Results: The intraocular pressure (IOP) measurements were noted to be high in both the patients at their initial presentation.[omicsonline.org]
  • Most patients presenting beyond the neonatal period have increased urinary glycosaminoglycans and dysostosis multiplex.[news-medical.net]
  • Hence, we present a case of mucopolysaccharidosis type IV, who presented with bilateral corneal clouding and other systemic features of this storage disorder.[jcor.in]
  • Combining the previous data 14-17 with data from the present results gives a total of 27 different mutations and a polymorphic site (table 2 ).[jmg.bmj.com]
  • Developmental delay is usually present by age 1, and severely affected individuals eventually lose basic functional skills (developmentally regress).[ghr.nlm.nih.gov]
  • It was not associated with photophobia, watering, or redness of eyes. Birth history: second child of consanguineous marriage, full-term, normal birth weight, vaginal hospital delivery. Elder brother was developmentally normal.[jcor.in]
  • […] bossing, hypertelorism, saddle nose, low-set ears, macroglossia, short stature, short neck, kyphosis of lumbar spine, pigeon chest, widening of wrist, bowing of legs, doubling of malleoli, abdominal distension, umbilical hernia, noisy breathing, and hirsutism[jcor.in]
Skeletal Dysplasia
  • , skeletal dysplasia, short stature, corneal clouding, developmental delay [1] MPS IX Natowicz syndrome Hyaluronidase deficiency 601492 HYAL1 3p21.31 Hyaluronidase Hyaluronic acid Nodular soft-tissue masses around joints, episodes of painful swelling[en.wikipedia.org]
  • The characteristic skeletal dysplasia includes short stature, dysostosis multiplex, and degenerative joint disease. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births 33.[centogene.com]
  • Corneal deposition is usually associated with skeletal dysplasia; similarly, mental retardation is associated with pigmentary retinopathies. [8], [9] The detection of GAG's metabolites in urine along with subnormal enzyme activity in leukocytes confirms[jcor.in]
  • The skeletal dysplasia results from a lack of skeletal remodelling and ossification abnormalities owing to abnormal deposition of GAGs in bone and cartilage.[neurologyindia.com]
  • Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is seen in all individuals with severe MPS I. Children have significant early bone involvement.[ncbi.nlm.nih.gov]
Hip Pain
  • […] been reported for the HYAL1 gene: Missense mutation c.802G A; p.E268K reported in association with short stature phenotype 35 Small deletion c.104delT reported in a single consanguineous family with three affected children presenting with knee and/or hip[centogene.com]
Short Neck
  • Affected children may also have an abnormally large head (macrocephaly), a short neck and broad chest, delayed tooth eruption, progressive hearing loss, and enlargement of the liver and spleen (hepatosplenomegaly).[rarediseases.org]
  • On examination, child had dysmorphic features such as frontal bossing, hypertelorism, saddle nose, low-set ears, macroglossia, short stature, short neck, kyphosis of lumbar spine, pigeon chest, widening of wrist, bowing of legs, doubling of malleoli,[jcor.in]
  • She had dysmorphic facial features, macroglossia, a short neck, a low hair line, a high arched palate, corneal haziness, Mongolian spots over back, exaggerated thoracic kyphosis, and short stout fingers.[neurologyindia.com]
  • Other problems include carpal tunnel syndrome or other nerve compression, stiff joints, claw hands and deformed feet, a short neck, and aortic valve disease. Some affected individuals also have obstructive airway disease and sleep apnea.[en.wikipedia.org]
  • Findings can include a short neck, wide mouth, square jaw, and micrognathia. Children with attenuated MPS I have variable degrees of growth retardation. Hepatosplenomegaly.[ncbi.nlm.nih.gov]


  • CASE REPORT The patient is a 6-year-old male who was referred to a pediatric clinic for an incidentally found CM-I and cervicothoracic syrinx [ Figure 1 ] identified during a preoperative workup prior to the surgical management of a progressive thoracolumbar[surgicalneurologyint.com]


  • Inborn Metabolic Diseases: Diagnosis and Treatment . 5th ed. New York, NY: Springer; 2013:chap 40. Version Info Last reviewed on 5/1/2017 Anna C.[umms.org]
  • But as with many other severe genetic disorders, early treatment appears to give the best results.[bsgct.org]
  • Patients are often initially misdiagnosed as having idiopathic developmental delay, attention deficit/hyperactivity disorder and/or autism spectrum disorders, putting them at risk for unnecessary testing and treatments.[scholars.northwestern.edu]
  • , 06.12.2012 - 310 Seiten The study of inherited metabolic disease became a subject of more than academic interest in 1953 when Bickel, Gerrard and Hickmans dis covered that the totally disabling consequences of phenylketonuria could be prevented if treatment[books.google.de]
  • Management and treatment General anaesthesia may be problematic in patients with MPS type IV, due to intubation difficulties.[orpha.net]


  • Prognosis Prognosis depends on the severity of the disease and on the quality of care, which can allow patients to survive beyond the age of 50. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • The prognosis (long-term outlook) depends upon the particular type of MPS. There are a number of different types of MPS that are designated somewhat confusingly by number (and letter), by syndrome name, and by precising what enzyme is lacking.[medicinenet.com]
  • The decision for surgery should be taking into account, the characterization of the metabolic disorder, its course, prognosis, and life expectancy.[neurologyindia.com]
  • The prognosis for successful keratoplasty is guarded as abnormal storage material may accumulate in the graft. [8] In MPS type IV, progressive neurological manifestation secondary to spinal malformations and resulting medullary compression is mostly responsible[jcor.in]
  • Mucopolysaccharidosis type I (Hurler syndrome) Patients with Hurler syndrome have a poor prognosis. Children with this disease have significant progressive physical and mental deficiencies.[emedicine.medscape.com]


  • Etiology A deficiency in one of the two enzymes required for the degradation of keratan sulfate (KS) is responsible for the MPS IV subtypes: N-acetylgalactosamine-6-sulfate sulfatase in MPS IVA, and beta-D-galactosidase in MPS IVB.[orpha.net]
  • View PDF SYSTEMATIC REVIEW Myocardial Ischemia Presenting with Hiccups By Shi-Min Yuan Myocardial infarction/ischemia can be an underlying etiology and a major causative risk factor of cardiovascular hiccups.[jcpsp.pk]
  • Posterior fossa arachnoid cysts and mega cisterna magna represent CSF-filled spaces of unknown etiology, though splitting or duplication of the arachnoid matter, brain structure agenesis, and disturbances of CSF circulation represent the most predominant[ajnr.org]


  • Summary Epidemiology Prevalence is approximately 1/250 000 for type IVA but incidence varies widely between countries. MPS IVB is even rarer.[orpha.net]
  • A retrospective epidemiological survey covering the period between 1970 and 2010 was implemented. Multiple ascertainment sources were used to identify affected patients.[link.springer.com]
  • An epidemiologic study of the mucopolysaccharidoses in Western Australia using multiple ascertainment sources was performed and the incidence rate for the period 1969-1996 was estimated.[emedicine.medscape.com]
  • The overall frequency of either p.R59H or 1622-1627insG was 57.7% of the disease-causing alleles, and this epidemiological study suggested a carrier frequency of 1:58 for this population 31.[centogene.com]
Sex distribution
Age distribution


  • [Frontiers in Bioscience, Landmark, 22, 385-406, January 1, 2016] Mucopolysaccharidosis VI: Pathophysiology, diagnosis and treatment 1 UCSF Benioff Children’s Hospital Oakland, Department of Gastroenterology, Oakland, CA, USA, 2 BioMarin Pharmaceutical[bioscience.org]
  • Mucopolysaccharidosis type I: current knowledge on its pathophysiological mechanisms. Metab Brain Dis. 2012 Jun;27(2):121-9. doi: 10.1007/s11011-012-9302-1. Epub 2012 Apr 14. Review. Clarke LA.[ghr.nlm.nih.gov]
  • The pathophysiology of brain atrophy remains unclear.[ajnr.org]
  • Pathophysiology GAGs are long, linear polysaccharide molecules composed of repeating dimers, each of which contains a hexuronic acid (or galactose in the case of keratan sulfate) and an amino sugar.[emedicine.medscape.com]
  • Mucopolysaccharidosis type I: Current knowledge on its pathophysiological mechanisms. Metab Brain Dis. 2012. 27: 121-9 6. Chiari H. Concerning alterations in the cerebellum resulting from cerebral hydrocephalus. 1891.[surgicalneurologyint.com]


  • Use of the ocular response analyzer has helped study the biomechanical properties of such corneas and helped in assessment of true values of intraocular pressures thus preventing inappropriate intervention options especially surgical options.[omicsonline.org]
  • Delivery of therapeutic protein for prevention of neurodegenerative changes: comparison of different CSF-delivery methods. Exp Neurol. 2015;263:79-90.[consultant360.com]
  • Business Media , 06.12.2012 - 310 Seiten The study of inherited metabolic disease became a subject of more than academic interest in 1953 when Bickel, Gerrard and Hickmans dis covered that the totally disabling consequences of phenylketonuria could be prevented[books.google.de]
  • The authors propose a therapeutic window of before 2 years of age which could allow for either prevention of neurocognitive decline or halting disease progression. References Ellinwood, N. M., et al. (2011).[bsgct.org]
  • The affected girls are heterozygotes in whom certain additional genetic events have prevented the expression of the normal allele.[news-medical.net]


Mucopolysaccharidosis 5 is now classified as a form of mucopolysaccharidosis 1, referred to as mucopolysaccharidosis 1S (MPS1S) or Scheie syndrome. MPS1S is the mildest form of mucopolysaccharidosis 1.

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Last updated: 2019-06-28 10:31