U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Exercise intolerance, riboflavin-responsive(RREI)

MedGen UID:
896368
Concept ID:
C4225187
Disease or Syndrome
Synonym: RREI
 
Gene (location): SLC25A32 (8q22.3)
 
Monarch Initiative: MONDO:0014795
OMIM®: 616839

Clinical features

From HPO
Exercise intolerance
MedGen UID:
603270
Concept ID:
C0424551
Finding
A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
Ragged-red muscle fibers
MedGen UID:
477048
Concept ID:
C3275417
Finding
An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.

Recent clinical studies

Etiology

Wen B, Dai T, Li W, Zhao Y, Liu S, Zhang C, Li H, Wu J, Li D, Yan C
J Neurol Neurosurg Psychiatry 2010 Feb;81(2):231-6. Epub 2009 Sep 15 doi: 10.1136/jnnp.2009.176404. PMID: 19758981
Scholte HR, Busch HF, Bakker HD, Bogaard JM, Luyt-Houwen IE, Kuyt LP
Biochim Biophys Acta 1995 May 24;1271(1):75-83. doi: 10.1016/0925-4439(95)00013-t. PMID: 7599230

Diagnosis

Hellebrekers DMEI, Sallevelt SCEH, Theunissen TEJ, Hendrickx ATM, Gottschalk RW, Hoeijmakers JGJ, Habets DD, Bierau J, Schoonderwoerd KG, Smeets HJM
Eur J Hum Genet 2017 Jun;25(7):886-888. Epub 2017 Apr 26 doi: 10.1038/ejhg.2017.62. PMID: 28443623Free PMC Article
Wen B, Dai T, Li W, Zhao Y, Liu S, Zhang C, Li H, Wu J, Li D, Yan C
J Neurol Neurosurg Psychiatry 2010 Feb;81(2):231-6. Epub 2009 Sep 15 doi: 10.1136/jnnp.2009.176404. PMID: 19758981
Liang WC, Tsai KB, Lai CL, Chen LH, Jong YJ
Pediatr Neurol 2004 Sep;31(3):218-21. doi: 10.1016/j.pediatrneurol.2004.02.015. PMID: 15351024

Therapy

Darin N, Hedberg-Oldfors C, Kroksmark AK, Moslemi AR, Kollberg G, Oldfors A
Eur J Neurol 2017 Apr;24(4):587-593. Epub 2017 Feb 9 doi: 10.1111/ene.13249. PMID: 28181352
Gerards M, van den Bosch BJ, Danhauser K, Serre V, van Weeghel M, Wanders RJ, Nicolaes GA, Sluiter W, Schoonderwoerd K, Scholte HR, Prokisch H, Rötig A, de Coo IF, Smeets HJ
Brain 2011 Jan;134(Pt 1):210-9. Epub 2010 Oct 7 doi: 10.1093/brain/awq273. PMID: 20929961
Wen B, Dai T, Li W, Zhao Y, Liu S, Zhang C, Li H, Wu J, Li D, Yan C
J Neurol Neurosurg Psychiatry 2010 Feb;81(2):231-6. Epub 2009 Sep 15 doi: 10.1136/jnnp.2009.176404. PMID: 19758981
Scholte HR, Busch HF, Bakker HD, Bogaard JM, Luyt-Houwen IE, Kuyt LP
Biochim Biophys Acta 1995 May 24;1271(1):75-83. doi: 10.1016/0925-4439(95)00013-t. PMID: 7599230
Carroll JE, Shumate JB, Brooke MH, Hagberg JM
Neurology 1981 Dec;31(12):1557-9. doi: 10.1212/wnl.31.12.1557. PMID: 7198210

Prognosis

Darin N, Hedberg-Oldfors C, Kroksmark AK, Moslemi AR, Kollberg G, Oldfors A
Eur J Neurol 2017 Apr;24(4):587-593. Epub 2017 Feb 9 doi: 10.1111/ene.13249. PMID: 28181352

Clinical prediction guides

Peng MZ, Shao YX, Li XZ, Zhang KD, Cai YN, Lin YT, Jiang MY, Liu ZC, Su XY, Zhang W, Jiang XL, Liu L
Cell Mol Life Sci 2022 Jun 21;79(7):375. doi: 10.1007/s00018-022-04404-0. PMID: 35727412
Gerards M, van den Bosch BJ, Danhauser K, Serre V, van Weeghel M, Wanders RJ, Nicolaes GA, Sluiter W, Schoonderwoerd K, Scholte HR, Prokisch H, Rötig A, de Coo IF, Smeets HJ
Brain 2011 Jan;134(Pt 1):210-9. Epub 2010 Oct 7 doi: 10.1093/brain/awq273. PMID: 20929961

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...