Neuromuscular

Home, Search, Index, Links, Pathology, Molecules, Syndromes,
Muscle, NMJ, Nerve, Spinal, Ataxia, Antibody & Biopsy, Patient Info


GLYCOGEN & GLUCOSE METABOLIC DISORDERS

Acid Maltase Deficiency: 17q25
Aldolase A: 16p11
Branching enzyme deficiency: 3p12
Debrancher: 1p21
β-Enolase: 17p13
Glycogen synthase 1: 19q13
Glycogenin: 3q24
Hexokinase 1 (HMSNR): 10q22
Lactate dehydrogenase A: 11p15
Lafora disease: Laforin, 6q24
Lamp-2: Xq24
Phosphofructokinase: 12q13
Phosphoglucomutase 1: 1p31
Phosphoglycerate Kinase: Xq21
Phosphoglycerate Mutase: 7p13
Phosphorylase (McArdle's): 11q13
Phosphorylase b Kinase
  PHKA1: Xq13
  PHKB: 16q12
  PRKAG2: 7q36
Polyglucosan body
  Branching enzyme (GBE1)
    Myopathy: 3p12
    Syndrome
  Myopathy: RBCK1; 20p13
Triosephosphate isomerase: 12p13

General principles
Glycolytic reactions
Metabolic pathways

From D Driemeier 19
Brahman calf with glycogenosis



MUSCLE METABOLISM: SUBSTRATES USED BY MUSCLE


Muscle Glycogenoses: General Principles 4



Acid Maltase Deficiency (Glycogenosis type 2; Pompe disease)

  Acid α-1,4-glucosidase ; Chromosome 17q25.3; Recessive

Debrancher deficiency (Glycogenosis type 3) 1

  Amylo-1,6-glucosidase (AGL) ; Chromosome 1p21.2; Recessive

Phosphorylase deficiency (McArdle's; GSD 5) 26

  Glycogen phosphorylase (muscle) ; Chromosome 11q13.1; Recessive

Phosphorylase b Kinase

Several syndromes

Phosphofructokinase, M (muscle) subunit (PFKM; Tarui's disease; Glycogen storage disease VII; GSD 7)

  6-Phosphofructokinase ; Chromosome 12q13.11; Recessive


Phosphoglycerate Kinase Deficiency

  Phosphoglycerate kinase 1 (PGK1) ; Chromosome Xq21.1; Recessive


Phosphoglycerate Mutase deficiency (Glycogen storage disease X; GSDX; GSD 10) 20

  Phosphoglycerate mutase M (muscle) subunit (PGAMM; PGAM2) ; Chromosome 7p13; Recessive

Lactate dehydrogenase A deficiency (GSD 11)

  L-lactate dehydrogenase, M (muscle) subunit (LDHA) ; Chromosome 11p15.1; Recessive

Branching enzyme deficiency (GSD 4)

  1,4-α-glucan branching enzyme (GBE1) ; Chromosome 3p12.2; Recessive

Polyglucosan body myopathy ± Immunodeficiency (PBMEI) 28

  RANBP-type and C3HC4-type Zinc finger-containing 1 (RBCK1) ; Chromosome 20p13; Recessive

Aldolase A (muscle) deficiency

  Fructose-biphosphate aldolase (ALDOA) ; Chromosome 16p11.2; Recessive


β-Enolase deficiency (GSD 13 ) 3

  ENO3 ; Chromosome 17p13.2; Recessive

Triosephosphate isomerase deficiency (TPID) (Hemolytic anemia)

  Triosephosphate isomerase 1 (TPI1) ; Chromosome 12p13.31; Recessive


Lafora's disease (Progressive myoclonic epilepsy 2A & 2B)

  Laforin tyrosine phosphatase (EPM2A) ; Chromosome 6q24.3; Recessive
  NHL repeat-containing 1 gene (NHLRC1; Malin; EPM2B) ; Chromosome 6p22.3; Recessive


Glycogen storage disease, Muscle, Type 0 (GSD0B) 22

  Glycogen synthase 1 (GYS1) ; Chromosome 19q13.33; Recessive

Phosphoglucomutase 1 Deficiency (GSD 14)

  Phosphoglucomutase 1 (PGM1) ; Chromosome 1p31.3; Recessive

Glycogenin Deficiency (GSD 15) 25

  Glycogenin (GYG) ; Chromosome 3q24; Recessive

Glycolysis flow charts
Return to Neuromuscular Syndromes
Return to Neuromuscular home page

References
1. J Neurol Neurosurg Psychiatry 1999;67:364-368
2. Neuromusc Dis 1999;9:403-407
3. Neurology 2001;56:A231-A232, Ann Neurol 2001;50
4. Muscle Nerve 2001;24:984-999
5. Ann Neurol 2003;53: Online March
6. Neuromuscul Disord 2002;12:824-827
7. Arch Neurol 2002;59:1395-1402
8. Pediatr Neurol 2004;30:146-148
9. Human Mutation 2004;23:47-56
10. Ann Neurol 2004;55:495–502
11. Brain 2005 Mar;128:671-677
12. Muscle Nerve 2000;23:641–645, Muscle Nerve 2009; Online Aug
13. Neurology 2005;64:368-370
14. Neurology. 2005;64:2139-2141
15. Clin Chim Acta 2005 Jul 1
16. Neurology 2005;64:1465-1467
17. Neurology 2005;64:2139–2141
18. Pediatric Anesthesia 2004;14:514–519
19. Vet Research Comm 2006;30:369-377
20. Muscle Nerve 2006 Jul 31, Arch Neurol 2009;66:394-398
21. Lab Invest. 2006 Oct 30
22. N Engl J Med 2007;357:1507-1514
23. Muscle & Nerve 2007;Dec 20
24. Neuromuscular Disorders 2009;19:207–211
25. NEJM 2010;362:1203-1210
26. J Neurol Neurosurg Psychiatry 2010;81:1182-1188, J Neurol Neurosurg Psychiatry 2012; Jan 16
27. Muscle Nerve 2012;45:436-440
28. Ann Neurol 2013; Online June

4/6/2014