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Increased serum sorbitol concentration

MedGen UID:
1751042
Concept ID:
C5421627
Finding
HPO: HP:0033124

Definition

An increased level of sorbitol in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased serum sorbitol concentration

Conditions with this feature

Neuronopathy, distal hereditary motor, autosomal recessive 8
MedGen UID:
1714781
Concept ID:
C5394466
Disease or Syndrome
Autosomal recessive distal hereditary motor neuronopathy-8 (HMNR8), or sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDD), is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking. Onset of symptoms is usually in the first or second decades of life, although later adult onset has been reported; the disorder is slowly progressive. Nerve conduction velocities are most consistent with an axonal process. More variable features include distal sensory impairment, upper limb tremor, and scoliosis. Laboratory studies show increased serum sorbitol (summary by Cortese et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).

Professional guidelines

PubMed

An I, Harman M, Esen M, Çelik H
Cutan Ocul Toxicol 2019 Sep;38(3):294-297. Epub 2019 May 16 doi: 10.1080/15569527.2019.1610887. PMID: 31039622

Recent clinical studies

Etiology

Lee YH, Young YH
Int J Audiol 2023 Aug;62(8):713-719. Epub 2022 Jun 23 doi: 10.1080/14992027.2022.2075799. PMID: 35736628
An I, Harman M, Esen M, Çelik H
Cutan Ocul Toxicol 2019 Sep;38(3):294-297. Epub 2019 May 16 doi: 10.1080/15569527.2019.1610887. PMID: 31039622
Yasui-Furukori N, Sato Y, Furukori H, Saito M, Nakagami T, Kaneko S
J Clin Psychiatry 2009 Jan;70(1):95-100. doi: 10.4088/jcp.07m03829. PMID: 19026267
Chatterjee K
Am J Cardiovasc Drugs 2002;2(1):1-6. doi: 10.2165/00129784-200202010-00001. PMID: 14727993
Nau R
Clin Pharmacokinet 2000 Jan;38(1):23-40. doi: 10.2165/00003088-200038010-00002. PMID: 10668857

Diagnosis

Lee YH, Young YH
Int J Audiol 2023 Aug;62(8):713-719. Epub 2022 Jun 23 doi: 10.1080/14992027.2022.2075799. PMID: 35736628
An I, Harman M, Esen M, Çelik H
Cutan Ocul Toxicol 2019 Sep;38(3):294-297. Epub 2019 May 16 doi: 10.1080/15569527.2019.1610887. PMID: 31039622
Tveito K, Hetta AK, Askedal M, Brunborg C, Sandvik L, Løberg EM, Skar V
Scand J Gastroenterol 2009;44(7):813-9. doi: 10.1080/00365520902846233. PMID: 19333820
Norlén H
Scand J Urol Nephrol Suppl 1985;96:1-50, 81p. PMID: 3938569
Sable RA, Rosenthal WS, Siegel J, Ho R, Jankowski RH
Dig Dis Sci 1983 Sep;28(9):801-6. doi: 10.1007/BF01296902. PMID: 6884166

Therapy

Wang S, Zhang Y, Meng W, Dong Y, Zhang S, Teng L, Liu Y, Li L, Wang D
Cells 2021 Oct 16;10(10) doi: 10.3390/cells10102776. PMID: 34685756Free PMC Article
Yasui-Furukori N, Sato Y, Furukori H, Saito M, Nakagami T, Kaneko S
J Clin Psychiatry 2009 Jan;70(1):95-100. doi: 10.4088/jcp.07m03829. PMID: 19026267
Chatterjee K
Am J Cardiovasc Drugs 2002;2(1):1-6. doi: 10.2165/00129784-200202010-00001. PMID: 14727993
Nau R
Clin Pharmacokinet 2000 Jan;38(1):23-40. doi: 10.2165/00003088-200038010-00002. PMID: 10668857
Gruy-Kapral C, Emmett M, Santa Ana CA, Porter JL, Fordtran JS, Fine KD
J Am Soc Nephrol 1998 Oct;9(10):1924-30. doi: 10.1681/ASN.V9101924. PMID: 9773794

Prognosis

Lee YH, Young YH
Int J Audiol 2023 Aug;62(8):713-719. Epub 2022 Jun 23 doi: 10.1080/14992027.2022.2075799. PMID: 35736628
Leurent G, Langella B, Fougerou C, Lentz PA, Larralde A, Bedossa M, Boulmier D, Le Breton H
Arch Cardiovasc Dis 2011 Mar;104(3):161-70. Epub 2011 Apr 2 doi: 10.1016/j.acvd.2011.01.005. PMID: 21497305
Erdogan D, Gullu H, Yildirim E, Tok D, Kirbas I, Ciftci O, Baycan ST, Muderrisoglu H
Atherosclerosis 2006 Feb;184(2):431-7. Epub 2005 Jun 23 doi: 10.1016/j.atherosclerosis.2005.05.011. PMID: 15979081
Chatterjee K
Am J Cardiovasc Drugs 2002;2(1):1-6. doi: 10.2165/00129784-200202010-00001. PMID: 14727993
Gehring H, Nahm W, Baerwald J, Fornara P, Schneeweiss A, Roth-Isigkeit A, Schmucker P
Acta Anaesthesiol Scand 1999 Apr;43(4):458-63. doi: 10.1034/j.1399-6576.1999.430415.x. PMID: 10225081

Clinical prediction guides

Lee YH, Young YH
Int J Audiol 2023 Aug;62(8):713-719. Epub 2022 Jun 23 doi: 10.1080/14992027.2022.2075799. PMID: 35736628
Erdogan D, Gullu H, Yildirim E, Tok D, Kirbas I, Ciftci O, Baycan ST, Muderrisoglu H
Atherosclerosis 2006 Feb;184(2):431-7. Epub 2005 Jun 23 doi: 10.1016/j.atherosclerosis.2005.05.011. PMID: 15979081
Nau R
Clin Pharmacokinet 2000 Jan;38(1):23-40. doi: 10.2165/00003088-200038010-00002. PMID: 10668857
Moir CL, Mandin H, Brant R
Can J Anaesth 1997 May;44(5 Pt 1):473-8. doi: 10.1007/BF03011933. PMID: 9161739
Norlén H, Allgén LG, Wicksell B
Scand J Urol Nephrol 1986;20(1):9-17. doi: 10.3109/00365598609024474. PMID: 2422743

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