INT24800

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Context Info
Confidence 0.59
First Reported 1982
Last Reported 2010
Negated 1
Speculated 2
Reported most in Abstract
Documents 44
Total Number 46
Disease Relevance 21.19
Pain Relevance 6.76

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

cytosol (AMPD1) small molecule metabolic process (AMPD1)
Anatomy Link Frequency
muscle 7
skeletal muscle 5
forearm 3
erythrocytes 2
neurons 2
AMPD1 (Homo sapiens)
Pain Link Frequency Relevance Heat
adenocard 21 100.00 Very High Very High Very High
aspirin 4 99.84 Very High Very High Very High
Pain 55 99.74 Very High Very High Very High
halothane 12 99.58 Very High Very High Very High
diclofenac 2 99.52 Very High Very High Very High
Fibrositis 2 97.48 Very High Very High Very High
abdominal pain 7 96.96 Very High Very High Very High
agonist 8 95.12 Very High Very High Very High
Inflammation 4 92.72 High High
anesthesia 10 85.76 High High
Disease Link Frequency Relevance Heat
Disorder Of Purine Or Pyrimidine Metabolism 54 100.00 Very High Very High Very High
Myalgia 38 99.90 Very High Very High Very High
Malignant Hyperthermia 9 99.80 Very High Very High Very High
Syndrome 13 99.70 Very High Very High Very High
Metabolic Disorder 2 99.52 Very High Very High Very High
Rhabdomyolysis 19 99.48 Very High Very High Very High
Toxicity 2 99.44 Very High Very High Very High
Paralysis 12 99.40 Very High Very High Very High
Muscle Disease 6 99.32 Very High Very High Very High
Neuropathic Pain 6 99.28 Very High Very High Very High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Despite some inconsistencies, MADA deficiency seems to be relevant to this clinical syndrome.
Negative_regulation (deficiency) of MADA associated with syndrome
1) Confidence 0.59 Published 1982 Journal Neurology Section Abstract Doc Link 7201581 Disease Relevance 0.50 Pain Relevance 0
It is likely that the clinical syndrome is related to MADA deficiency.
Negative_regulation (deficiency) of MADA associated with syndrome
2) Confidence 0.58 Published 1984 Journal Helv Paediatr Acta Section Abstract Doc Link 6724999 Disease Relevance 0.58 Pain Relevance 0.15
The finding of a normal serum lactate elevation and a diminished serum ammonia elevation after ischemic exercise is usually considered indicative of myoadenylate deaminase deficiency.
Negative_regulation (deficiency) of deaminase associated with disorder of purine or pyrimidine metabolism
3) Confidence 0.51 Published 1999 Journal Mil Med Section Abstract Doc Link 10495640 Disease Relevance 0.52 Pain Relevance 0
[Myoadenylate deaminase deficiency in a child with myalgias induced by physical exercise].
Negative_regulation (deficiency) of deaminase associated with disorder of purine or pyrimidine metabolism
4) Confidence 0.49 Published 2004 Journal Rev Neurol Section Title Doc Link 15378456 Disease Relevance 0.20 Pain Relevance 0.09
Tension myalgia versus myoadenylate deaminase deficiency: a case report.
Negative_regulation (deficiency) of deaminase associated with disorder of purine or pyrimidine metabolism and myalgia
5) Confidence 0.44 Published 1997 Journal Arch Phys Med Rehabil Section Title Doc Link 9014967 Disease Relevance 1.28 Pain Relevance 0.27
Myoadenylate deaminase deficiency was proven both histochemically and biochemically.
Negative_regulation (deficiency) of Myoadenylate deaminase associated with disorder of purine or pyrimidine metabolism
6) Confidence 0.44 Published 1993 Journal Eur. J. Pediatr. Section Abstract Doc Link 8335021 Disease Relevance 0.79 Pain Relevance 0.18
The girl was found to be homozygous for the C 34-T mutation of the AMPD1 gene causing primary myoadenylate deaminase deficiency in skeletal muscle.
Negative_regulation (deficiency) of myoadenylate deaminase in skeletal muscle associated with disorder of purine or pyrimidine metabolism
7) Confidence 0.44 Published 1993 Journal Eur. J. Pediatr. Section Abstract Doc Link 8335021 Disease Relevance 0.76 Pain Relevance 0.16
In a survey of 302 routine muscle biopsies, 3 of 36 patient with myalgia had absence of MADA.
Negative_regulation (absence) of MADA in muscle associated with myalgia
8) Confidence 0.43 Published 1982 Journal Neurology Section Abstract Doc Link 7201581 Disease Relevance 0.41 Pain Relevance 0
AMP deaminase (AMPD) deficiency is an inherited disorder of skeletal muscle found in approximately 2% of the Caucasian population.
Negative_regulation (deficiency) of AMP deaminase in skeletal muscle associated with muscle disease
9) Confidence 0.43 Published 2007 Journal J. Appl. Physiol. Section Abstract Doc Link 17463303 Disease Relevance 0.18 Pain Relevance 0.08
AMP deaminase (AMPD) deficiency is an inherited disorder of skeletal muscle found in approximately 2% of the Caucasian population.
Negative_regulation (deficiency) of AMPD in skeletal muscle associated with muscle disease
10) Confidence 0.43 Published 2007 Journal J. Appl. Physiol. Section Abstract Doc Link 17463303 Disease Relevance 0.18 Pain Relevance 0.08
The MADA enzymatic activity in the muscle was very low.
Negative_regulation (low) of MADA in muscle
11) Confidence 0.43 Published 1984 Journal Helv Paediatr Acta Section Abstract Doc Link 6724999 Disease Relevance 0.49 Pain Relevance 0.15
AMP deaminase deficiency is associated with lower sprint cycling performance in healthy subjects.
Negative_regulation (deficiency) of AMP deaminase
12) Confidence 0.43 Published 2007 Journal J. Appl. Physiol. Section Title Doc Link 17463303 Disease Relevance 0.18 Pain Relevance 0.09
These results indicate that measuring venous ammonia concentrations after forearm ischemic exercise is an effective means of screening for MADA deficiency but that submaximal exercise performance, whether due to weakness, pain or poor effort, can provide false positive results.
Negative_regulation (deficiency) of MADA in forearm associated with pain
13) Confidence 0.42 Published 1986 Journal Adv. Exp. Med. Biol. Section Abstract Doc Link 3766241 Disease Relevance 0.17 Pain Relevance 0.10
Measurements of purine compounds released after exercise may increase the specificity of forearm ischemic exercise testing for MADA deficiency.
Negative_regulation (deficiency) of MADA in forearm
14) Confidence 0.42 Published 1986 Journal Adv. Exp. Med. Biol. Section Abstract Doc Link 3766241 Disease Relevance 0.17 Pain Relevance 0.09
A 55 years old patient suffering from exercise-induced muscle pain and stiffness due to primary myoadenylate deaminase deficiency has been successfully treated with D-ribose since 1984: single doses of 4 grams administered at the beginning of exercise prevented the symptoms completely; on continuation of exercise this dose had to be repeated all 10-30 min.
Negative_regulation (deficiency) of myoadenylate deaminase in muscle associated with pain, disorder of purine or pyrimidine metabolism and myalgia
15) Confidence 0.42 Published 1986 Journal Klin. Wochenschr. Section Abstract Doc Link 3102830 Disease Relevance 0.27 Pain Relevance 0.10
Although rarely diagnosed in children, MAD deficiency must be included in the differential diagnosis of syndromes with exercise intolerance


Negative_regulation (deficiency) of MAD
16) Confidence 0.41 Published 2004 Journal Rev Neurol Section Body Doc Link 15378456 Disease Relevance 0.12 Pain Relevance 0
In 14 members of four families with a hereditary syndrome of exertional myalgia, five of eight muscle biopsies from symptomatic individuals showed histochemical and biochemical absence of myoadenylate deaminase (MADA).
Negative_regulation (absence) of deaminase in muscle associated with syndrome and myalgia
17) Confidence 0.38 Published 1982 Journal Neurology Section Abstract Doc Link 7201581 Disease Relevance 0.42 Pain Relevance 0
Familial myoadenylate deaminase deficiency and exertional myalgia.
Negative_regulation (deficiency) of deaminase associated with pain, myalgia and disorder of purine or pyrimidine metabolism
18) Confidence 0.38 Published 1982 Journal Neurology Section Title Doc Link 7201581 Disease Relevance 0.47 Pain Relevance 0.10
This case suggests that a diminished serum ammonia elevation in the IFET is not always indicative of myoadenylate deaminase deficiency, a disorder of ammonia production.
Negative_regulation (deficiency) of deaminase associated with disorder of purine or pyrimidine metabolism
19) Confidence 0.38 Published 1999 Journal Mil Med Section Abstract Doc Link 10495640 Disease Relevance 0.51 Pain Relevance 0
Myoadenylate deaminase deficiency in a 5-year-old boy with intermittent muscle pain.
Negative_regulation (deficiency) of deaminase in muscle associated with pain and myalgia
20) Confidence 0.37 Published 1984 Journal Helv Paediatr Acta Section Title Doc Link 6724999 Disease Relevance 0.55 Pain Relevance 0.39

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