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Increased serum beta-hexosaminidase

MedGen UID:
435911
Concept ID:
C2673361
Finding
HPO: HP:0003333

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased serum beta-hexosaminidase

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.
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.
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.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Cai F, Zhang L, Zhao P, Qiu F, Mukhtar AM, Ma Y, Chen J, Han F
Dis Markers 2022;2022:9687868. Epub 2022 Oct 17 doi: 10.1155/2022/9687868. PMID: 36299825Free PMC Article
Sun XL, Kido T, Nakagawa H, Nishijo M, Sakurai M, Ishizaki M, Morikawa Y, Okamoto R, Ichimori A, Ohno N, Kobayashi S, Miyati T, Nogawa K, Suwazono Y
Environ Sci Pollut Res Int 2021 May;28(18):22372-22379. Epub 2021 Jan 8 doi: 10.1007/s11356-020-12278-7. PMID: 33420688
Waszkiewicz N, Olański W, Chojnowska S, Kołakowska U, Plewa K, Mielech W, Bagniuk-Plewa A, Wasilewska A, Szulc A, Szajda SD, Zwierz K
J Addict Med 2018 Jul/Aug;12(4):329-335. doi: 10.1097/ADM.0000000000000411. PMID: 29570478
Del Palacio M, Romero S, Casado JL
AIDS Rev 2012 Jul-Sep;14(3):179-87. PMID: 22833061
Wehr H, Czartoryska B, Górska D, Matsumoto H
Alcohol Clin Exp Res 1991 Feb;15(1):13-5. doi: 10.1111/j.1530-0277.1991.tb00513.x. PMID: 1673822

Diagnosis

D'Amore C, Nuzzo S, Briguori C
Interv Cardiol Clin 2020 Jul;9(3):335-344. Epub 2020 May 12 doi: 10.1016/j.iccl.2020.02.004. PMID: 32471674
Beker BM, Corleto MG, Fieiras C, Musso CG
Int Urol Nephrol 2018 Apr;50(4):705-713. Epub 2018 Jan 6 doi: 10.1007/s11255-017-1781-x. PMID: 29307055
Medić B, Rovcanin B, Vujovic KS, Obradovic D, Duric D, Prostran M
Curr Med Chem 2016;23(19):1981-97. doi: 10.2174/0929867323666160210130256. PMID: 26860999
Sharpe PC
Ann Clin Biochem 2001 Nov;38(Pt 6):652-64. doi: 10.1258/0004563011901064. PMID: 11732647
Wehr H, Czartoryska B, Górska D, Matsumoto H
Alcohol Clin Exp Res 1991 Feb;15(1):13-5. doi: 10.1111/j.1530-0277.1991.tb00513.x. PMID: 1673822

Therapy

Yang YS, Cao MD, Wang A, Liu QM, Zhu DX, Zou Y, Ma LL, Luo M, Shao Y, Xu DD, Wei JF, Sun JL
Front Immunol 2022;13:911300. Epub 2022 Jul 22 doi: 10.3389/fimmu.2022.911300. PMID: 35936002Free PMC Article
Wang Y, Tang N, Mao M, Zhou Y, Wu Y, Li J, Zhang W, Peng C, Chen X, Li J
J Dermatol Sci 2021 Apr;102(1):47-57. Epub 2021 Feb 17 doi: 10.1016/j.jdermsci.2021.02.004. PMID: 33676788
D'Amore C, Nuzzo S, Briguori C
Interv Cardiol Clin 2020 Jul;9(3):335-344. Epub 2020 May 12 doi: 10.1016/j.iccl.2020.02.004. PMID: 32471674
Xu Y, Liu C, Dou D, Wang Q
Int Immunopharmacol 2017 Feb;43:79-84. Epub 2016 Dec 13 doi: 10.1016/j.intimp.2016.12.010. PMID: 27984711
Del Palacio M, Romero S, Casado JL
AIDS Rev 2012 Jul-Sep;14(3):179-87. PMID: 22833061

Prognosis

Cai F, Zhang L, Zhao P, Qiu F, Mukhtar AM, Ma Y, Chen J, Han F
Dis Markers 2022;2022:9687868. Epub 2022 Oct 17 doi: 10.1155/2022/9687868. PMID: 36299825Free PMC Article
Beker BM, Corleto MG, Fieiras C, Musso CG
Int Urol Nephrol 2018 Apr;50(4):705-713. Epub 2018 Jan 6 doi: 10.1007/s11255-017-1781-x. PMID: 29307055
Medić B, Rovcanin B, Vujovic KS, Obradovic D, Duric D, Prostran M
Curr Med Chem 2016;23(19):1981-97. doi: 10.2174/0929867323666160210130256. PMID: 26860999
Metra M, Cotter G, Gheorghiade M, Dei Cas L, Voors AA
Eur Heart J 2012 Sep;33(17):2135-42. Epub 2012 Aug 10 doi: 10.1093/eurheartj/ehs205. PMID: 22888113
Wehr H, Czartoryska B, Górska D, Matsumoto H
Alcohol Clin Exp Res 1991 Feb;15(1):13-5. doi: 10.1111/j.1530-0277.1991.tb00513.x. PMID: 1673822

Clinical prediction guides

Cai F, Zhang L, Zhao P, Qiu F, Mukhtar AM, Ma Y, Chen J, Han F
Dis Markers 2022;2022:9687868. Epub 2022 Oct 17 doi: 10.1155/2022/9687868. PMID: 36299825Free PMC Article
Beker BM, Corleto MG, Fieiras C, Musso CG
Int Urol Nephrol 2018 Apr;50(4):705-713. Epub 2018 Jan 6 doi: 10.1007/s11255-017-1781-x. PMID: 29307055
Medić B, Rovcanin B, Vujovic KS, Obradovic D, Duric D, Prostran M
Curr Med Chem 2016;23(19):1981-97. doi: 10.2174/0929867323666160210130256. PMID: 26860999
Del Palacio M, Romero S, Casado JL
AIDS Rev 2012 Jul-Sep;14(3):179-87. PMID: 22833061
Wehr H, Czartoryska B, Górska D, Matsumoto H
Alcohol Clin Exp Res 1991 Feb;15(1):13-5. doi: 10.1111/j.1530-0277.1991.tb00513.x. PMID: 1673822

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