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Mucopolysacchariduria

MedGen UID:
870284
Concept ID:
C4024726
Finding
HPO: HP:0008155

Definition

Excessive amounts of mucopolysaccharide in the urine. [from HPO]

Conditions with this feature

Pseudo-Hurler polydystrophy
MedGen UID:
10988
Concept ID:
C0033788
Disease or Syndrome
GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.
Multiple sulfatase deficiency
MedGen UID:
75664
Concept ID:
C0268263
Disease or Syndrome
Initial symptoms of multiple sulfatase deficiency (MSD) can develop from infancy through early childhood, and presentation is widely variable. Some individuals display the multisystemic features characteristic of mucopolysaccharidosis disorders (e.g., developmental regression, organomegaly, skeletal deformities) while other individuals present primarily with neurologic regression (associated with leukodystrophy). Based on age of onset, rate of progression, and disease severity, several different clinical subtypes of MSD have been described: Neonatal MSD is the most severe with presentation in the prenatal period or at birth with rapid progression and death occurring within the first two years of life. Infantile MSD is the most common variant and may be characterized as attenuated (slower clinical course with cognitive disability and neurodegeneration identified in the 2nd year of life) or severe (loss of the majority of developmental milestones by age 5 years). Juvenile MSD is the rarest subtype with later onset of symptoms and subacute clinical presentation. Many of the features found in MSD are progressive, including neurologic deterioration, heart disease, hearing loss, and airway compromise.
GNPTG-mucolipidosis
MedGen UID:
340743
Concept ID:
C1854896
Disease or Syndrome
Mucolipidosis III gamma (ML III?) is a slowly progressive inborn error of metabolism mainly affecting skeletal, joint, and connective tissues. Clinical onset is in early childhood; the progressive course results in severe functional impairment and significant morbidity from chronic pain. Cardiorespiratory complications (restrictive lung disease from thoracic involvement, and thickening and insufficiency of the mitral and aortic valves) are rarely clinically significant. A few (probably <10%) affected individuals display mild cognitive impairment.
Chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome
MedGen UID:
349095
Concept ID:
C1859104
Disease or Syndrome
Chondrodysplasia calcificans Metaphysealis
MedGen UID:
347809
Concept ID:
C1859147
Disease or Syndrome
Mucolipidosis type II
MedGen UID:
435914
Concept ID:
C2673377
Disease or Syndrome
GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.
Spondyloepimetaphyseal dysplasia, Maroteaux type
MedGen UID:
463613
Concept ID:
C3159322
Disease or Syndrome
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Oculocerebrodental syndrome
MedGen UID:
1674537
Concept ID:
C5193101
Disease or Syndrome
Oculoskeletodental syndrome (OCSKD) is characterized by congenital cataract, short stature and various skeletal anomalies, dysmorphic facial features and dental anomalies, developmental delay, and stroke. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis (Tiosano et al., 2019).

Recent clinical studies

Etiology

Busche A, Hennermann JB, Bürger F, Proquitté H, Dierks T, von Arnim-Baas A, Horn D
Eur J Pediatr 2009 Aug;168(8):969-73. Epub 2008 Dec 10 doi: 10.1007/s00431-008-0871-2. PMID: 19066960
Kabra M, Gulati S, Kaur M, Sharma J, Singh A, Chopra V, Menon PS, Kalra V
Indian J Pediatr 2000 Sep;67(9):683-7. doi: 10.1007/BF02762185. PMID: 11028124
Hwu WL, Wang TR
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1991 Sep-Oct;32(5):280-5. PMID: 1776456
Gericke GS
S Afr Med J 1977 Jan 29;51(5):140-4. PMID: 850847

Diagnosis

Civallero G, Bender F, Gomes A, Marasca G, Guidobono R, De Mari J, Burin M, Giugliani R
Clin Chim Acta 2013 Jan 16;415:334-6. Epub 2012 Nov 21 doi: 10.1016/j.cca.2012.11.009. PMID: 23178442
Busche A, Hennermann JB, Bürger F, Proquitté H, Dierks T, von Arnim-Baas A, Horn D
Eur J Pediatr 2009 Aug;168(8):969-73. Epub 2008 Dec 10 doi: 10.1007/s00431-008-0871-2. PMID: 19066960
Fiszer-Szafarz B, Czartoryska B, Tylki-Szymanska A
Glycoconj J 2005 Nov;22(7-9):395-400. doi: 10.1007/s10719-005-1390-2. PMID: 16311883
Patel ZM, Ambani LM
J Inherit Metab Dis 1980;2(2):35-7. doi: 10.1007/BF01799072. PMID: 6118467
Brill PW, Kim HJ, Beratis NG, Hirschhorn K
Am J Roentgenol Radium Ther Nucl Med 1975 Nov;125(3):731-8. doi: 10.2214/ajr.125.3.731. PMID: 128300

Therapy

Buist NR, Curtis HT
Lancet 1972 Aug 5;2(7771):286. doi: 10.1016/s0140-6736(72)91729-1. PMID: 4114545

Prognosis

Fiszer-Szafarz B, Czartoryska B, Tylki-Szymanska A
Glycoconj J 2005 Nov;22(7-9):395-400. doi: 10.1007/s10719-005-1390-2. PMID: 16311883
Kabra M, Gulati S, Kaur M, Sharma J, Singh A, Chopra V, Menon PS, Kalra V
Indian J Pediatr 2000 Sep;67(9):683-7. doi: 10.1007/BF02762185. PMID: 11028124
Takahashi K, Yaginuma Y, Kojima M, Hakozaki H, Hoshino R, Hayashi S
Acta Pathol Jpn 1978 Nov;28(6):979-93. doi: 10.1111/j.1440-1827.1978.tb01286.x. PMID: 104545

Clinical prediction guides

Fiszer-Szafarz B, Czartoryska B, Tylki-Szymanska A
Glycoconj J 2005 Nov;22(7-9):395-400. doi: 10.1007/s10719-005-1390-2. PMID: 16311883
Chang SH, Lin SJ, Lee YY, Yang RC, Yang SL
Kaohsiung J Med Sci 1996 May;12(5):295-300. PMID: 8676436
Hayashi S, Nagata T, Kimura A, Tsurumi K
Tohoku J Exp Med 1978 Nov;126(3):215-23. doi: 10.1620/tjem.126.215. PMID: 734646
Takahashi K, Yaginuma Y, Kojima M, Hakozaki H, Hoshino R, Hayashi S
Acta Pathol Jpn 1978 Nov;28(6):979-93. doi: 10.1111/j.1440-1827.1978.tb01286.x. PMID: 104545
Brill PW, Kim HJ, Beratis NG, Hirschhorn K
Am J Roentgenol Radium Ther Nucl Med 1975 Nov;125(3):731-8. doi: 10.2214/ajr.125.3.731. PMID: 128300

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