Muscle phosphogylcerate mutase (PGAM) deficiency

A second case

Nereo Bresolin, Young Ii Ro, Marcelino Reyes, Armand F. Miranda, Salvatore Dimauro

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Muscle phosphoglycerate mutase (PGAM) activity was markedly decreased (6% of the normal mean) in a 17-year-old girl with recurrent myoglobinuria after intense exercise. Muscle biopsy showed increased PAS stain; glycogen concentration was twice normal. Studies of anaerobic glycolysis in vitro showed decreased lactate production with glycogen, and with all hexose phosphate glycolytic intermediates, which was corrected by addition of purified PGAM to the reaction mixtures. A defect of the M subunit of PGAM was documented by electrophoretic, heat lability, and mercury inhibition studies. Intermediate PGAM activities (39 and 50% of normal) were found in muscle biopsies from the patient’s asymptomatic parents. These data confirm the clinical, morphologic, and biochemical features described in the first patient with PGAM deficiency and suggest autosomal-recessive transmission of the trait.

Original languageEnglish
Pages (from-to)1049-1053
Number of pages5
JournalNeurology
Volume33
Issue number8
Publication statusPublished - 1983

Fingerprint

Intramolecular Transferases
Muscles
Glycogen
Phosphoglycerate Mutase
Biopsy
Hexoses
Glycolysis
Mercury
Lactic Acid
Coloring Agents
Hot Temperature
Parents
Phosphates
Exercise
Intermediate

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

Cite this

Bresolin, N., Ro, Y. I., Reyes, M., Miranda, A. F., & Dimauro, S. (1983). Muscle phosphogylcerate mutase (PGAM) deficiency: A second case. Neurology, 33(8), 1049-1053.

Muscle phosphogylcerate mutase (PGAM) deficiency : A second case. / Bresolin, Nereo; Ro, Young Ii; Reyes, Marcelino; Miranda, Armand F.; Dimauro, Salvatore.

In: Neurology, Vol. 33, No. 8, 1983, p. 1049-1053.

Research output: Contribution to journalArticle

Bresolin, N, Ro, YI, Reyes, M, Miranda, AF & Dimauro, S 1983, 'Muscle phosphogylcerate mutase (PGAM) deficiency: A second case', Neurology, vol. 33, no. 8, pp. 1049-1053.
Bresolin N, Ro YI, Reyes M, Miranda AF, Dimauro S. Muscle phosphogylcerate mutase (PGAM) deficiency: A second case. Neurology. 1983;33(8):1049-1053.
Bresolin, Nereo ; Ro, Young Ii ; Reyes, Marcelino ; Miranda, Armand F. ; Dimauro, Salvatore. / Muscle phosphogylcerate mutase (PGAM) deficiency : A second case. In: Neurology. 1983 ; Vol. 33, No. 8. pp. 1049-1053.
@article{8b767f2fb02845ebbe1fe776eef1c904,
title = "Muscle phosphogylcerate mutase (PGAM) deficiency: A second case",
abstract = "Muscle phosphoglycerate mutase (PGAM) activity was markedly decreased (6{\%} of the normal mean) in a 17-year-old girl with recurrent myoglobinuria after intense exercise. Muscle biopsy showed increased PAS stain; glycogen concentration was twice normal. Studies of anaerobic glycolysis in vitro showed decreased lactate production with glycogen, and with all hexose phosphate glycolytic intermediates, which was corrected by addition of purified PGAM to the reaction mixtures. A defect of the M subunit of PGAM was documented by electrophoretic, heat lability, and mercury inhibition studies. Intermediate PGAM activities (39 and 50{\%} of normal) were found in muscle biopsies from the patient’s asymptomatic parents. These data confirm the clinical, morphologic, and biochemical features described in the first patient with PGAM deficiency and suggest autosomal-recessive transmission of the trait.",
author = "Nereo Bresolin and Ro, {Young Ii} and Marcelino Reyes and Miranda, {Armand F.} and Salvatore Dimauro",
year = "1983",
language = "English",
volume = "33",
pages = "1049--1053",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "8",

}

TY - JOUR

T1 - Muscle phosphogylcerate mutase (PGAM) deficiency

T2 - A second case

AU - Bresolin, Nereo

AU - Ro, Young Ii

AU - Reyes, Marcelino

AU - Miranda, Armand F.

AU - Dimauro, Salvatore

PY - 1983

Y1 - 1983

N2 - Muscle phosphoglycerate mutase (PGAM) activity was markedly decreased (6% of the normal mean) in a 17-year-old girl with recurrent myoglobinuria after intense exercise. Muscle biopsy showed increased PAS stain; glycogen concentration was twice normal. Studies of anaerobic glycolysis in vitro showed decreased lactate production with glycogen, and with all hexose phosphate glycolytic intermediates, which was corrected by addition of purified PGAM to the reaction mixtures. A defect of the M subunit of PGAM was documented by electrophoretic, heat lability, and mercury inhibition studies. Intermediate PGAM activities (39 and 50% of normal) were found in muscle biopsies from the patient’s asymptomatic parents. These data confirm the clinical, morphologic, and biochemical features described in the first patient with PGAM deficiency and suggest autosomal-recessive transmission of the trait.

AB - Muscle phosphoglycerate mutase (PGAM) activity was markedly decreased (6% of the normal mean) in a 17-year-old girl with recurrent myoglobinuria after intense exercise. Muscle biopsy showed increased PAS stain; glycogen concentration was twice normal. Studies of anaerobic glycolysis in vitro showed decreased lactate production with glycogen, and with all hexose phosphate glycolytic intermediates, which was corrected by addition of purified PGAM to the reaction mixtures. A defect of the M subunit of PGAM was documented by electrophoretic, heat lability, and mercury inhibition studies. Intermediate PGAM activities (39 and 50% of normal) were found in muscle biopsies from the patient’s asymptomatic parents. These data confirm the clinical, morphologic, and biochemical features described in the first patient with PGAM deficiency and suggest autosomal-recessive transmission of the trait.

UR - http://www.scopus.com/inward/record.url?scp=0020514477&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0020514477&partnerID=8YFLogxK

M3 - Article

VL - 33

SP - 1049

EP - 1053

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 8

ER -