Muscle phosphofructokinase deficiency in two generations
- PMID:8880699
- DOI: 10.1016/0022-510x(96)00131-1
Muscle phosphofructokinase deficiency in two generations
Abstract
Phosphofructokinase (PFK) is the key regulatory enzyme of glycolysis. Patients lacking the muscular isoform of PFK typically present with myopathy and compensated hemolysis (glycogenosis type VII or Tarui's disease). Since 1965 about 30 cases of muscular PFK deficiency have been reported. In most cases family history suggests a recessive inherited trait. We describe a family of Ashkenazi Jewish origin with two members in subsequent generations suffering from muscular PFK deficiency. The propositus, a 19-year-old male patient presented with weakness, myalgias and exercise intolerance since early infancy. His father also had early fatigue on exercise with myalgias; the mother and a 12-year-old brother were asymptomatic. Muscle biopsy of both the propositus and his father showed increased glycogen storage and absent histochemical stain for PFK. Biochemical studies of muscle revealed a markedly decreased PFK activity and DNA analysis of the muscle PFK gene revealed compound heterozygosity in both cases. This is the first description of proven muscle PFK deficiency (glycogenosis type VII) in two subsequent generations.
Similar articles
- Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease).Raben N, Sherman JB, Adams E, Nakajima H, Argov Z, Plotz P.Raben N, et al.Muscle Nerve Suppl. 1995;3:S35-8. doi: 10.1002/mus.880181409.Muscle Nerve Suppl. 1995.PMID:7603525
- Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation.Sivakumar K, Vasconcelos O, Goldfarb L, Dalakas MC.Sivakumar K, et al.Neurology. 1996 May;46(5):1337-42. doi: 10.1212/wnl.46.5.1337.Neurology. 1996.PMID:8628478
- Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N.Nichols RC, et al.Am J Hum Genet. 1996 Jul;59(1):59-65.Am J Hum Genet. 1996.PMID:8659544Free PMC article.
- Mutations in muscle phosphofructokinase gene.Raben N, Sherman JB.Raben N, et al.Hum Mutat. 1995;6(1):1-6. doi: 10.1002/humu.1380060102.Hum Mutat. 1995.PMID:7550225Review.
- Studies of gene expression and activity of hexokinase, phosphofructokinase and glycogen synthase in human skeletal muscle in states of altered insulin-stimulated glucose metabolism.Vestergaard H.Vestergaard H.Dan Med Bull. 1999 Feb;46(1):13-34.Dan Med Bull. 1999.PMID:10081651Review.
Cited by
- Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis.García M, Pujol A, Ruzo A, Riu E, Ruberte J, Arbós A, Serafín A, Albella B, Felíu JE, Bosch F.García M, et al.PLoS Genet. 2009 Aug;5(8):e1000615. doi: 10.1371/journal.pgen.1000615. Epub 2009 Aug 21.PLoS Genet. 2009.PMID:19696889Free PMC article.
- Genomics and genetics in the biology of adaptation to exercise.Bouchard C, Rankinen T, Timmons JA.Bouchard C, et al.Compr Physiol. 2011 Jul;1(3):1603-48. doi: 10.1002/cphy.c100059.Compr Physiol. 2011.PMID:23733655Free PMC article.Review.
- Loss of positive allosteric interactions between neuronal nitric oxide synthase and phosphofructokinase contributes to defects in glycolysis and increased fatigability in muscular dystrophy.Wehling-Henricks M, Oltmann M, Rinaldi C, Myung KH, Tidball JG.Wehling-Henricks M, et al.Hum Mol Genet. 2009 Sep 15;18(18):3439-51. doi: 10.1093/hmg/ddp288. Epub 2009 Jun 19.Hum Mol Genet. 2009.PMID:19542095Free PMC article.
- Absence of Dystrophin Disrupts Skeletal Muscle Signaling: Roles of Ca2+, Reactive Oxygen Species, and Nitric Oxide in the Development of Muscular Dystrophy.Allen DG, Whitehead NP, Froehner SC.Allen DG, et al.Physiol Rev. 2016 Jan;96(1):253-305. doi: 10.1152/physrev.00007.2015.Physiol Rev. 2016.PMID:26676145Free PMC article.Review.
- Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance.Ristow M, Vorgerd M, Möhlig M, Schatz H, Pfeiffer A.Ristow M, et al.J Clin Invest. 1997 Dec 1;100(11):2833-41. doi: 10.1172/JCI119831.J Clin Invest. 1997.PMID:9389749Free PMC article.
Publication types
MeSH terms
Substances
Related information
LinkOut - more resources
Full Text Sources