Muscle AMP deaminase deficiency

I was just looking over my 23 and Me genetic stuff and noted that I am homozygous for AMPD1 gene, and it can cause Muscle AMP deaminase deficiency - and that is characterized by 'post-exercise symptoms'.

I was surprised that I'd not heard of it yet:

Epidemiology

About 1-2% of the Caucasian population carries the genetic defect causing myoadenylate deaminase deficiency, but only a minority of carriers develop symptoms. The prevalence is unknown but several hundred patients with the disorder have been reported in case reports and patient series. Men and women are equally affected.

Clinical description

The vast majority of patients suffer from post-exercise symptoms: rapid fatigue, cramps or myalgias. Approximately equal proportions of the patients first develop symptoms during childhood, adolescence, or as young or older adults. After progression of the symptoms over the first few years, the clinical course usually stabilises. There is no evidence of muscular dystrophy or muscular wasting.



And from...
https://rarediseases.info.nih.gov/d...ophosphate-deaminase-1-deficiency/cases/23731
underlining mine...

How might adenosine monophosphate (AMP) deaminase deficiency be treated?

Treatment in the form of exercise modulation is recommended.[1] Unfortunately, there is no medical cure for this disorder. One possibility for management is the administration of D-ribose.[2][3][4] This pentose is easily absorbed in the gut and rapidly cleared by metabolic pathways. It presumably serves as an additional source of energy for muscle, and is only efficient as long as it is present in blood. Due to its short half-life, it has to be taken constantly to be beneficial. Dosing is also difficult as too little has no effect and too much causes diarrhea. These limitations are major limitations. In addition, ribose is not approved by an organization for the treatment of patients.[2] Xylitol, which can be metabolically converted to ribose, has also been reported to be beneficial.[3] Genetic approaches may be feasible in the future for inherited cases, whereas treatment of the underlying condition is essential in secondary cases.[3][4]

Last updated: 5/12/2009



What is adenosine monophosphate deaminase 1 deficiency?

Adenosine monophosphate deaminase 1 (AMPD1) deficiency is an inherited condition that can affect the muscles used for movement (skeletal muscles). Many people with AMPD1 deficiency do not have symptoms. People who do have symptoms typically have muscle pain (myalgia), cramping, and weakness after exercise, and often get tired faster than others. Some affected people appear to have more severe symptoms. AMPD1 deficiency is caused by changes (mutations) in the AMPD1 gene and is inherited in an autosomal recessive manner.[5]

Other types of AMPD deficiency include the acquired type (due to a muscle or joint condition), and the coincidental inherited type (due to both mutations in the AMPD1 gene and a separate muscle or joint disorder).[5]

Last updated: 8/23/2016



What are the signs and symptoms of adenosine monophosphate deaminase 1 deficiency?

In many people, adenosine monophosphate deaminase 1 (AMPD1) deficiency does not cause any symptoms. The reasons for this are unclear. People who do have symptoms typically have muscle pain (myalgia) or weakness after exercise or prolonged physical activity. They often get tired more quickly and stay tired longer than others. Some people have more severe symptoms, but it is unclear whether these symptoms are due solely to AMPD1 deficiency, or additional factors.[5]

Last updated: 3/4/2015

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Fwiw, I took d-ribose for a few years, but not hourly to equal 15 grams a day (as is mentioned elsewhere), but will give it another go at an hourly rate.

I wonder how many ME folks are also homozygous for this gene?

 

I've wondered about that, too, but it doesn't always cause symptoms – apparently some elite endurance athletes have it too. I suppose it might have more effect in combination with another variant somewhere else?

 

https://www.medlink.com/index.php/article/myoadenylate_deaminase_deficiency

 

@ScottTriGuy You got a SNP number for that? I would like to check also.

 

Ta da...

 

Thanks. Maybe I am using it wrong but it came up with nothing when I entered the rsID. Is it true that certain SNPs are only checked for in newer / older versions?

I put in AMPD1 and got a bunch of SNPs but none matching that ID.

 

Oh, don't know why that is. I'm pretty ignorant of the whole SNPs thing and am just stumbling my way through it now.

A friend sent me this link if its helpful: https://www.malacards.org/card/adenosine_monophosphate_deaminase_1_deficiency