Biochemical investigation of an unusual case of glycogenosis

doi:10.1016/S0022-3476(67)80077-5

The Journal of Pediatrics

Volume 71, Issue 2, August 1967, Pages 225-232

https://doi.org/10.1016/S0022-3476(67)80077-5 Get rights and content

An unusual case of combined glycogenosis with muscle limit dextrinosis, myopathy, and defective liver glucose-6-phosphatase (G-6-Pase) is described. The clinical symptoms resembled those of McArdle's syndrome, except that the onset of the disease occurred at an early age and the patient lacked sustained muscle contracture after prolonged exercise. The patient's muscle phosphorylase and glycolytic apparatus were normal except for an amylo-1-6-glucosidase deficiency, whereas the defect in McArdle's syndrome is a deficiency in muscle phosphorylase. The patient's restricted exercise tolerance did not improve even when muscle cell glycolysis was experimentally increased.

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Cited by (12)

Acid maltase deficiency and related myopathies
2000, Neurologic Clinics
Citation Excerpt :
Some patients, however, have pseudohypertrophy, particularly of the more proximal muscle groups.41 There are rare reports of exercise intolerance with fatigue, cramping, or myoglobinuria.11, 30, 46, 51 Cardiomyopathy also can complicate debrancher deficiency, again, usually in adulthood.13, 27, 74
Neonatal metabolic myopathies
1999, Seminars in Perinatology
The primary presentations of neuromuscular disease in the newborn period are hypotonia and weakness. Although metabolic myopathies are inherited disorders that present from birth and may present with subtle to marked neonatal hypotonia, a number of these defects are diagnosed classically in childhood, adolescence, or adulthood. Disorders of glycogen, lipid, or mitochondrial metabolism may cause three main clinical syndromes in muscle, namely, (1) progressive weakness with hypotonia (eg, acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; carnitine uptake and carnitine acylcarnitine translocase defects among the fatty acid oxidation (FAO) defects; and cytochrome oxidase deficiency among the mitochondrial disorders) or (2) acute, recurrent, reversible muscle dysfunction with exercise intolerance and acute muscle breakdown or myoglobinuria (with or without cramps), eg, phosphorylase, phosphofructokinase, and phosphoglycerate kinase among the glycogenoses and carnitine palmitoyltransferase II deficiency among the disorders of FAO or (3) both (eg, long-chain or very long-chain acyl coenzyme A (CoA) dehydrogenase, short-chain l-3-hydroxyacyl-CoA dehydrogenase, and trifunctional protein deficiencies among the FAO defects). Episodes of exercise-induced myoglobinuria tend to present in later childhood or adolescence; however, myoglobinuria in the first year of life may occur in FAO disorders during catabolic crises precipitated by fasting or infection. The following is a survey of genetic disorders of glycogen and lipid metabolism resulting in myopathy, focusing primarily on those defects, to date, that have presented in the neonatal or early infancy period. Disorders of mitochondrial metabolism are discussed in another chapter.
Metabolic myopathies
1996, Seminars in Pediatric Neurology
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; long- and very-long-chain acyl-CoA dehydrogenase (LCAD, VLCAD), and trifunctional enzyme deficiencies among the fatty acid oxidation (FAO) defects; and mitochondrial enzyme deficiencies) or (2) acute, recurrent, reversible muscle dysfunction with exercise intolerance and acute muscle breakdown or myoglobinuria (with or without cramps) (eg, phosphorylase (PPL), phosphorylase b kinase (PBK), phosphofructokinase (PFK), phosphoglycerate kinase (PGK), phosphoglycerate mutase (PGAM), and lactate dehydrogenase (LDH) among the glycogenoses and carnitine palmitoyltransferase II (CPT II) deficiency among the disorders of FAO or (3) both (eg, PPL, PBK, PFK among the glycogenoses; LCAD, VLCAD, short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD), and trifunctional enzyme deficiencies among the FAO defects; and multiple mitochondrial DNA (mtDNA) deletions). Myoadenylate deaminase deficiency, a purine nucleotide cycle defect, is somewhat controversial and is characterized by exercise-related cramps leading rarely to myoglobinuria.
Disorders of glycogen metabolism of muscle
1989, Neurologic Clinics
Glycogen is a crucial source of energy in the initial stages of muscle activity and during exercise of high intensity. There are 10 well-defined biochemical defects of glycogen metabolism expressed in muscle and affecting the following enzymes: alpha 1,4 glucosidase (glycogenesis type II), debrancher enzyme (III), brancher enzyme (IV), phosphorylase (V), phosphofructokinase (VII), phosphorylase b kinase (VIII), phosphoglycerate kinase (IX), phosphoglycerate mutase (X), lactate dehydrogenese (XI). These disorders cause two main syndromes: one characterized by exercise intolerance with cramps and myoglobinuria, the other by fixed weakness. However, there are examples of clinical and biochemical heterogeneity for each disease, and molecular genetic analysis is already showing evidence of genetic heterogeneity. Although our understanding of the biochemical errors has progressed considerably, the pathogenesis of symptoms and signs remains incomplete.
Molecular aspects of muscle disease
1979, Molecular Aspects of Medicine
Different clinical aspects of debrancher deficiency myopathy
1999, Journal of Neurology Neurosurgery and Psychiatry

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^*: Supported by a grant from the Scientific and Technical Research Council of Turkey (T. A. G-37).

^*: Address, Department of Biochemistry, Hacettepe Medical School, Hacettepe Science Center, Ankara, Turkey.

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Biochemical investigation of an unusual case of glycogenosis*

Am. J. Med.

Lancet

J. Biol. Chem.

Am. Heart J.

J. Biol. Chem.

Myopathy due to a defect in muscle glycogen breakdown

Clin Sc.

Chronic progressive myopathy with myoglobinuria: Demonstration of a glycogenolytic defect in the muscle

J. Clin. Invest.

Hereditary absence of muscle phosphorylase (McArdle's syndrome)

New England J. Med.

Skeletal muscle glycogenosis. An investigation of two dissimilar cases

J. Neurol. Neurosurg. & Psychiat.

McArdle's disease. Hereditary myopathy due to lack of muscle phosphorylase

Arch. Neurol.

A case of McArdle's syndrome with a positive family history

J. Neurol. Neurosurg. & Psychiat.

Family study of phosphorylase deficiency in muscle

Ann. Int. Med.

McArdle's syndrome with previously unreported electrocardiographic and serum enzyme abnormalities

Ann. Int. Med.