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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
Nau R
Clin Pharmacokinet 2000 Jan;38(1):23-40. doi: 10.2165/00003088-200038010-00002. PMID: 10668857
Jiang ZM, Zhang SY, Wang XR, Yang NF, Zhu Y, Wilmore D
Ann Surg 1993 Feb;217(2):175-84. doi: 10.1097/00000658-199302000-00012. PMID: 8439215Free PMC Article
Calon B, Pottecher T, Frey A, Ravanello J, Otteni JC, Bach AC
Infusionstherapie 1990 Oct;17(5):246-8. doi: 10.1159/000222495. PMID: 2127044
Strandberg O, Wijnbladh E
Scand J Haematol Suppl 1977;32:304-9. doi: 10.1111/j.1600-0609.1977.tb01258.x. PMID: 341285

Diagnosis

Kaya K
Cutan Ocul Toxicol 2024 Dec;43(4):305-315. Epub 2024 Sep 13 doi: 10.1080/15569527.2024.2402411. PMID: 39250678
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
Kamaraj C, Kaushik NK, Mohanakrishnan D, Elango G, Bagavan A, Zahir AA, Rahuman AA, Sahal D
Parasitol Res 2012 Aug;111(2):703-15. Epub 2011 Jun 4 doi: 10.1007/s00436-011-2457-6. PMID: 21643655
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
Nau R
Clin Pharmacokinet 2000 Jan;38(1):23-40. doi: 10.2165/00003088-200038010-00002. PMID: 10668857
Buylaert W, Calle P, De Paepe P, Verstraete A, Samyn N, Vogelaers D, Vandenbulcke M, Belpaire F
Hum Exp Toxicol 1996 Aug;15(8):607-11. doi: 10.1177/096032719601500801. PMID: 8863052
Grubeck-Loebenstein B, Kronik G, Mösslacher H, Waldhäusl W
Exp Clin Endocrinol 1983 Jan;81(1):59-64. doi: 10.1055/s-0029-1210207. PMID: 6682783
Strandberg O, Wijnbladh E
Scand J Haematol Suppl 1977;32:304-9. doi: 10.1111/j.1600-0609.1977.tb01258.x. PMID: 341285

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
Nau R
Clin Pharmacokinet 2000 Jan;38(1):23-40. doi: 10.2165/00003088-200038010-00002. PMID: 10668857
Jiang ZM, Zhang SY, Wang XR, Yang NF, Zhu Y, Wilmore D
Ann Surg 1993 Feb;217(2):175-84. doi: 10.1097/00000658-199302000-00012. PMID: 8439215Free PMC Article
Grubeck-Loebenstein B, Kronik G, Mösslacher H, Waldhäusl W
Exp Clin Endocrinol 1983 Jan;81(1):59-64. doi: 10.1055/s-0029-1210207. PMID: 6682783
Strandberg O, Wijnbladh E
Scand J Haematol Suppl 1977;32:304-9. doi: 10.1111/j.1600-0609.1977.tb01258.x. PMID: 341285

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