User:Tony Mach/inborn2

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GeneReviews: GSD IX Phosphorylase Kinase Deficiency

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Complex I: NADH dehydrogenase (ubiquinone)
Complex II: Succinate dehydrogenase
Complex III: Coenzyme Q – cytochrome c reductase
Complex IV: Cytochrome c oxidase
Complex V: ATP synthase

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Lactate shuttle hypothesis

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Uncoupling protein

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… The diagnosis of dermatomyositis is based on five criteria

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Using a blood test, finding higher levels of enzymes found in skeletal muscle, including
- creatinine kinase
- aldolase (Carbohydrate metabolism)
- glutamate oxaloacetate (indirectly related to carbohydrate metabolism)
- pyruvate transaminases (Carbohydrate metabolism)
- lactate dehydrogenase (Carbohydrate metabolism)
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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.	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

^ Cite error: The named reference Stryer95 was invoked but never defined (see the help page).
^ OMIM:GSD 9d
^ Livingstone, Callum; Chinnery, Patrick F.; Turnbull, Douglass M. (2001). "The ischaemic lactate-ammonia test". Ann Clin Biochem. doi:10.1258/0004563011900786.
^ ^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)

[Stryer95-1] Cite error: The named reference Stryer95 was invoked but never defined (see the help page).

[2] OMIM:GSD 9d

[ischaemic-3] Livingstone, Callum; Chinnery, Patrick F.; Turnbull, Douglass M. (2001). "The ischaemic lactate-ammonia test". Ann Clin Biochem. doi:10.1258/0004563011900786.

[ischaemic2-4] 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)

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