McArdlen.
/məˈkɑːdl/, U.S. /məˈkɑrdəl/ Medicine.
attributive and in the genitive. Designating an inherited (autosomal recessive) disorder of skeletal muscle in which deficiency of the enzyme glycogen phosphorylase results in an inability to metabolize glycogen to lactate, leading to exercise intolerance, muscle cramps and weakness, and intermittent myoglobinuria.
ΘΚΠ
the world > health and disease > ill health > a disease > disorders of internal organs > metabolic disorders > [noun] > other metabolic disorders
xanthomatosis1900
Tay-Sachs1907
ketosis1917
protein shock1917
hyperinsulinism1924
Niemann–Pick1928
tyrosinosis1932
von Gierke's disease1933
phenylketonuria1935
cystic fibrosis1938
mucoviscidosis1945
cystinosis1949
oxalosis1952
McArdle1957
orotic aciduria1959
PKU1961
sphingolipidosis1962
Reye's syndrome1965
Menkes1969
1957 R. H. S. Thompson & E. J. King Biochem. Disorders in Human Dis. xi. 480 McArdle's syndrome. McArdle (1951) described a myopathy attributed to a defect in muscle glycogen breakdown.
1963 New Eng. Jrnl. Med. 17 Jan. 136/2 The 2 cases presented appear to constitute a new..variety of skeletal-muscle phosphorylase deficiency..in contrast to previous cases of ‘McArdle's disease’ with symptoms beginning in childhood.
1982 T. M. Devlin Textbk. Biochem. vii. 385 Also called type V glycogen storage disease, McArdle's disease is caused by an absence of muscle phosphorylase.
1984 Tampa (Florida) Tribune 5 Apr. 20 a/2 She describes her suffering from McArdle's Syndrome, a rare muscle disease.
1997 Jrnl. Med. Genetics 34 391 We examined a large consanguineous Druze family with McArdle disease for mutations in the glycogen myophosphorylase (PYGM) gene.
This entry has been updated (OED Third Edition, March 2001; most recently modified version published online March 2022).
<
n.1957