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GeneReviews: GSD IX Phosphorylase Kinase Deficiency

Stoichiometry of aerobic respiration and most known fermentation types in eucaryotic cell. [1] Numbers in circles indicate counts of carbon atoms in molecules, C6 is glucose C6H12O6, C1 carbon dioxide CO2. Mitochondrial outer membrane is omitted.
The electron transport chain in the mitochondrion is the site of oxidative phosphorylation. The NADH and succinate generated in the citric acid cycle are oxidized, providing energy to power ATP synthase.


… The diagnosis of dermatomyositis is based on five criteria

Galactose is metabolised almost exclusively by the liver. Galactose is also produced from lysosomal degradation of glycoproteins and glycolipids.


Glycolytic step
Enzyme
Gene:
Organ(s)
Disease
(Synonyms)
Reported symptoms.
Forms (if applicable)
Note: Not all patients have all symptoms; severity and presentation can vary.
Diagnostic tests Management and treatment References
and links
Glycolysis step 8
Phosphoglycerate mutase
PGAM2:
Muscle
GSD type X
(GSD 10, muscle phosphoglycerate mutase deficiency, myopathy due to PGAM deficiency, PGAMD)
Myopathy, exercise intolerance. Exercise-induced cramps, myoglobinuria and myalgia. Rhabdomyolysis possible.
Rhabdomyolysis/myoglobinuria may cause acute renal failure.
No treatment information in references given. NLM/GHR:PGAM2
OMIM:PGAM2
NLM/GHR:GSD X
OMIM:GSD X
GARD:GSD X
ORPHA:GSD X
Glycogenolysis final step:
Release of G-1-P
Phosphorylase kinase, alpha 1
(Activation of muscle glycogen phosphorylase, see GSD 5)
PHKA1:
Muscle
GSD type IXd
(GSD 9d, phosphorylase b kinase deficiency, PhK deficiency, muscle glycogenosis)
Myopathy. Exercise-induced muscle weakness or stiffness. Relative mild compared to other metabolic myopathies. Typically adult-onset, some asymptomatic in late adulthood. No liver involvement. Exercise test: Both impaired and normal lactate observed; possible submaximal/maximal or aerobic/anaerobic discrepancy. Normal or exaggerated ammonia response.[2] NLM/GHR:PHKA1
OMIM:PHKA1
NLM/GHR:GSD 9
OMIM:GSD 9d
ORPHA:GSD 9d/9e
Glycogenolysis step:
Release of G-1-P
Glycogen phosphorylase
PYGM:
Muscle
GSD type V
(GSD 5, McArdle's disease, muscle phosphorylase deficiency, myophosphorylase deficiency, PYGM deficiency)
Myopathy: Exercise intolerance, symptoms tend to improve with rest. "Second wind" phenomenon in most. Rhabdomyolysis and myoglobinuria possible. Progressive muscle weakness worsens in two-thirds of affected individuals, however in some the muscle weakness is stable.
Onset forms: infant, child, adult. Infant-form most severe (e.g. progressive respiratory failure), adult-onset can be very mild (e.g. mainly poor stamina).
Exercise test: Severely impaired rise of lactate. Normal or enhanced ammonia.[3][4] NLM/GHR:PYGM
OMIM:PYGM
NLM/GHR:GSD 5
OMIM:GSD 5
GARD:GSD 5
ORPHA:GSD 5
Glycolysis step 3
Phosphofructo-kinase 1
(Not involved in glyconeogenesis)
PFKM:
Muscle, also RBCs
GSD type VII
(GSD 7, Tarui's Disease,
Phosphofructokinase deficiency)
Late-onset form': Presents later in life. Myopathy, weakness and fatigue. Exercise intolerance (more than in GSD 5). Severe symptoms from classic type are absent. Exercise test: Late about 3 times increase of lactate (higher than in GSD 5 and lower than in healthy). Increased rise of ammonia.[4] No specific treatment. General advise is avoidance of vigorous exercise and of high-carbohydrate meals. NLM/GHR:PFKM
OMIM:PFKM
OMIM:PFKL
NLM/GHR:GSD VII
OMIM:GSD VII
GARD:GSD VII
ORPHA:GSD VII
Glycolysis step 9
Enolase 3
(Beta-enolase,
β-enolase)
ENO3:
Muscle
GSD type XIII
(GSD 13, β-enolase deficiency, beta-enolase deficiency, enolase 3 deficiency, muscle enolase deficiency)
Myopathy. Exercise-induced myalgias, generalized muscle weakness and fatigability. Exercise test: No rise of lactate.
Biopsy: Focal sarcoplasmic accumulation of glycogen-beta particles. Immunohistochemistry and immunoblotting show reduced beta-enolase protein.
No treatment information in references given. NLM/GHR:ENO3
OMIM:ENO3
OMIM:GSD XIII
GARD:GSD XIII
ORPHA:GSD XIII


Glycolytic step
Enzyme
Gene:
Organ(s)
Disease
(Synonyms)
Reported symptoms.
Forms (if applicable)
Note: Not all patients have all symptoms; severity and presentation can vary.
Diagnostic tests Management and treatment References
and links
Inter-conversion of pyruvate and lactate.
Lactate dehydrogenase A
LDHA:
Muscle
GSD type XI
(GSD 11, lactate dehydrogenase deficiency, LDH deficiency)
Myopathy. Exercise intolerance.

Note: Deficiency of dehydrogenase-B (LDHB) has been observed as asymptomatic.
Exercise test: Normal rise of pyruvate, impaired rise of lactate. No treatment information in references given. NLM/GHR:LDHA
OMIM:LDHA
NLM/GHR:GSD 11
OMIM:GSD 11
ORPHA:GSD 11
ORPHA:GSD 11
Glycogenesis step:
Glucogen chain branching
Glycogen branching enzyme
GBE1:
Liver, muscle
GSD type IV
(GSD 4, Andersen's disease, amylopectinosis, brancher deficiency, glycogen branching enzyme deficiency, familial cirrhosis with deposition of abnormal glycogen)
Adult neuromuscular form Activity of branching enzyme in erythrocytes. High-protein diet. Liver transplant for progressive liver disease. Cardiomyopathy may require certain medications. NLM/GHR:GBE1
OMIM:GBE1
NLM/GHR:GSD 4
OMIM:GSD 4
GARD:GSD 4
ORPHA:GSD 4
Glycogenesis step:
Glycogen primer synthesis
Glycogenin
GYG1:
Muscle
GSD type XV
(GSD 15, glycogenin deficiency)
Polyglucosan body myopathy type 2
(PGBM2)
GSD 15: Myopathy, cardiomyopathy. Rare. Muscle weakness.
PGBM2: Myopathy. Proximal muscle weakness of the lower limbs, gait disturbances. Upper limbs and/or distal muscle weakness in some. Onset-age highly variable, slowly progressive.
Skeletal muscle biopy: deficit of glycogen, predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation.
Endomyocardial biopsy: hypertrophic cardiomyocytes, enlarged nuclei and large centrally located vacuoles containing periodic acid Schiff (PAS)-positive material (but ultrastructurally different from glycogen). Glycogen depletion in he remainder of the cytoplasm.
No treatment information in references given. NLM/GHR:GYG1
OMIM:GYG1
OMIM:GSD 15
ORPHA:GSD 15

OMIM:PGBM2
ORPHA:PGBM2


Glycolytic step
Enzyme
Gene:
Organ(s)
Disease
(Synonyms)
Reported symptoms.
Forms (if applicable)
Note: Not all patients have all symptoms; severity and presentation can vary.
Diagnostic tests Management and treatment References
and links
Glycolysis step 4
Aldolase A
ALDOA:
Muscle, also liver and RBCs
GSD type XII
(GSD 12, Aldolase A deficiency, ALDOA deficiency, red cell aldolase deficiency)
Muscle Symptoms: Myopathy. Exercise intolerance, cramps. In some rhabdomyolysis and myoglobinuria.
Liver Symptoms: In some Hepatomegaly
RBC Symptoms: Hemolytic anemia.
Rhabdomyolysis/myoglobinuria may cause acute renal failure.
No treatment information in references given. NLM/GHR:ALDOA
OMIM:ALDOA
OMIM:GSD XII
GARD:GSD XII
ORPHA:GSD XII
Glycogenesis step:
Glucogen chain lengthening
Glycogen synthase
GYS1:
Muscle
GSD type 0b
(GSD 0b, glycogen synthetase deficiency)
Myopathy, cardiomyopathy, exercise intolerance. NLM/GHR:GYS2
OMIM:GYS2
OMIM:GSD 0B
ORPHA:GSD 0B
Degradation of glycogen to glucose in lysosomes
Acid alpha-glucosidase
(Alternative pathway to glycogenolysis)
GAA:
Myopathy
GSD type II
(GSD 2, Pompe's disease, acid maltase deficiency, deficiency of lysosomal alpha-glucosidase, cardiomegalia glycogenica)
Classic infantile form (Pompe disease): Cardiomyopathy and muscular hypotonia. In some respiratory involvement.
Juvenile and adult form:: Myopathy of the skeletal muscles. Some similarity to limb-girdle dystrophy. In some respiratory involvement.
Non-classic infantile form: Less severe.
NLM/GHR:GAA
OMIM:GAA
NLM/GHR:GSD 2
OMIM:GSD 2
GARD:GSD 2
ORPHA:GSD 2
  1. ^ Cite error: The named reference Stryer95 was invoked but never defined (see the help page).
  2. ^ OMIM:GSD 9d
  3. ^ Livingstone, Callum; Chinnery, Patrick F.; Turnbull, Douglass M. (2001). "The ischaemic lactate-ammonia test". Ann Clin Biochem. doi:10.1258/0004563011900786.
  4. ^ a b Piirilä, Päivi; Auranen, Mari (2016). "Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease". Front Neurol. doi:10.3389/fneur.2016.00082.{{cite journal}}: CS1 maint: unflagged free DOI (link)