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Adenosine monophosphate deaminase deficiency type 1 or AMPD1, is a human metabolic disorder in which the body consistently lacks the enzyme AMP deaminase, [1] in sufficient quantities. This may result in exercise intolerance, muscle pain and muscle cramping. The disease was formerly known as myoadenylate deaminase deficiency (MADD).
229665 Ensembl ENSG00000116748 ENSMUSG00000070385 UniProt P23109 Q3V1D3 RefSeq (mRNA) NM_001172626 NM_000036 NM_001033303 RefSeq (protein) NP_000027 NP_001166097 NP_001028475 Location (UCSC) Chr 1: 114.67 – 114.7 Mb Chr 3: 102.98 – 103.01 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse AMP deaminase 1 is an enzyme that in humans is encoded by the AMPD1 gene. Adenosine ...
During vigorous ischemic exercise, skeletal muscle functions anaerobically, generating lactate and ammonia a coproduct of muscle myoadenylate deaminase (AMPD) activity. The forearm ischemic exercise test takes advantage of this physiology and has been standardized to screen for disorders of glycogen metabolism and AMPD deficiency.
In myoadenylate deaminase deficiency (AMPD1 deficiency), there is no rise in ammonia. [2] Some fatty acid oxidation disorders show lactic acidosis, hypoketotic hypoglycaemia and hyperammonemia, while others are asymptomatic. [2] [41] [42]
Myoadenylate deaminase deficiency or Adenosine monophosphate deaminase deficiency type 1, a metabolic disorder; Multiple acyl-CoA dehydrogenase deficiency, another name for the genetic disorder Glutaric acidemia type 2; MADD (gene) or MAP kinase-activating death domain protein; Madd, the fruit of Saba senegalensis
AMP deaminase deficiency (formally known as myoadenylate deaminase deficiency or MADD) is a metabolic myopathy which results in excessive AMP buildup brought on by exercise. AMP deaminase is needed to convert AMP into IMP in the purine nucleotide cycle.
Limb girdle muscular dystrophies (LGMD) as defined by the European Neuromuscular Centre in 2018. [1] [2] They are named by the following system: LGMD, recessive or dominant inheritance (R or D), order of discovery (number), affected protein.
Mitochondrial myopathies: deficiency of succinate dehydrogenase, cytochrome c oxidase and coenzyme Q10; Others: glucose-6-phosphate dehydrogenase deficiency, myoadenylate deaminase deficiency and muscular dystrophies