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Qué (quién) es muscle phosphorylase deficiency - definición

MAMMALIAN PROTEIN FOUND IN HOMO SAPIENS

Glycogen phosphorylase, muscle form

Purine nucleoside phosphorylase deficiency

COMBINED T CELL AND B CELL IMMUNODEFICIENCY THAT IS A RARE AUTOSOMAL RECESSIVE METABOLIC DISORDER THAT HAS MATERIAL BASIS IN MUTATION IN THE PNP GENE AND CHARACTERIZED MAINLY BY DECREASED T-CELL FUNCTION

Purine nucleoside phosphorylase deficiency is a rare autosomal recessive metabolic disorder which results in immunodeficiency.

https://en.wikipedia.org/wiki/Purine_nucleoside_phosphorylase_deficiency

Ornithine transcarbamylase deficiency

UREA CYCLE DISORDER THAT INVOLVES A MUTATED AND INEFFECTIVE FORM OF THE ENZYME ORNITHINE TRANSCARBAMYLASE

Ornithine Transcarbamylase Deficiency; Ornithine carbamoyltransferase deficiency disease; Ornithine Carbamoyltransferase Deficiency Disease; Ornithine transcarbamoylase deficiency; Ornithine carbamoyltransferase deficiency; OTC deficiency

Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase, the defective enzyme in this disorder is the final enzyme in the proximal portion of the urea cycle, responsible for converting carbamoyl phosphate and ornithine into citrulline.

https://en.wikipedia.org/wiki/Ornithine_transcarbamylase_deficiency

Fluorine deficiency

MEDICAL CONDITION

Fluorine Deficiency; Fluoride deficiency

Fluoride or fluorine deficiency is a disorder which may cause increased dental caries (or tooth decay, is the breakdown of dental tissues by the acidic products released by the "bacterial fermentation of dietary carbohydrates.") and possibly osteoporosis (a bone disorder which leads to a decrease in bone mass, and an increase in bone fragility), due to a lack of fluoride in the diet.

https://en.wikipedia.org/wiki/Fluorine_deficiency

Wikipedia

Myophosphorylase

Myophosphorylase or glycogen phosphorylase, muscle associated (PYGM) is the muscle isoform of the enzyme glycogen phosphorylase and is encoded by the PYGM gene. This enzyme helps break down glycogen (a form of stored carbohydrate) into glucose-1-phosphate (not glucose), so it can be used within the muscle cell. Mutations in this gene are associated with McArdle disease (GSD-V, myophosphorylase deficiency), a glycogen storage disease of muscle.

Myophosphorylase comes in two forms: form 'a' is phosphorylated by phosphorylase kinase, form 'b' is not phosphorylated. Form 'a' is de-phosphorylated into form 'b' by the enzyme phosphoprotein phosphatase, which is activated by elevated insulin.

Both forms 'a' and 'b' of myophosphorylase have two conformational states: active (R or relaxed) and inactive (T or tense). When either form 'a' or 'b' are in the active state, then the enzyme converts glycogen into glucose-1-phosphate.

Myophosphorylase-b is allosterically activated by elevated AMP within the cell, and allosterically inactivated by elevated ATP and/or glucose-6-phosphate. Myophosphorylase-a is active, unless allosterically inactivated by elevated glucose within the cell. In this way, myophosphorylase-a is the more active of the two forms as it will continue to convert glycogen into glucose-1-phosphate even with high levels of glycogen-6-phosphate and ATP. (See Glycogen phosphorylase§Regulation).

https://en.wikipedia.org/wiki/Myophosphorylase