Doctor insights on:
Fatal Congenital Enzyme Deficiency
No: G6pd deficiency is a genetic disorder that is passed down on the x chromosome. A person who has this diagnosis cannot get rid of it. However, the enzyme levels can fluctuate in people and certain illnesses, exposures, and stresses can make the symptoms of the disease appear when these enzyme levels drop low. So you may not have symptoms of the disease, even though you still have the diagnosis. ...Read moreSee 2 more doctor answers
What are the natural sources of digestive enzymes, i ve no appetite or very low one since a long time, cd this be due enzyme deficiency?
COULD BE: There are myriad reasons for poor appetite. This would be at least a 2 hour visit investigating clues, symptoms, etc.. I see you have respiratory problems. Do you smoke? That's a big one. You are young, and sound like you have sxs of anxiety, which in and of itself is classic for loss of appetite. See a good, comprehensive doctor and ask questions, go through all your symptoms, how long, etc. ...Read more
Is there a blood test that can detect enzyme deficiencies? If so what is the name of the test? What type of doctor can test you for enzyme deficiency?
Depends: It depends on what symptoms one has. If the symptoms are gastrointestinal,then a gastroenterologist would order the appropriate tests. For hormonal problems, an endocrinologist is best. For blood problems, a hematologist is best,etc. The specialist looks for the enzyme deficiency. ...Read moreSee 1 more doctor answer
I am 38 year old female with hypothyroidism, vitamin d and b deficiencies and highly suspected aldh 2 enzyme deficiency. How does this all tie in?
I have an enzyme deficiency that doesn't allow me to run or walk fast. My muscles tense up, my feet & legs get numb and it hurts. What enzyme is it?
Nonspecific: A number of hereditary muscle diseases can mimic your symptoms, and you can have a muscle biopsy which will reveal your exact condition. The numbness is not of muscle origin however, and raises question of underlying nerve disorder instead. Go to local medical school and see neuromuscular specialist. ...Read more
I have a slightly elevated angiotensin conv. Enzyme the cut off was 53 and i was 64. Does this mean I have sarcoidosis? And is that a fatal illness?
See below: Sarcoidosis can be such a mild disorder that no treatment is needed or can be life-threatening. Most of the time simple treatments - not steroids - will control the disease. Workup for underlying causes/mimics is essential. Ace levels are meaningful only related to clinical symptoms. Rheumatologist should provide clarification. ...Read moreSee 1 more doctor answer
Can my heterozygotes status of congenital adrenal hyperplasia (21-Hydrolaxe deficiency, salt-wasting) explain hirsurtism & symptoms like polydipsia?
Maybe: Hydroxylase deficiency is actually a continuum, and there are many alleles. A workup is probably not worthwhile. Manage unwanted body hair with electrolysis or lasers -- you're doing yourself a favor. If your urinalysis (chemical, sediment), renal functions (BUN, creatinine) and concentrating ability (SG >1.020) while thirsty) are normal, I would not recommend further studies. ...Read more
Can vitamin B12 deficiency or a congenital B12 absorption problem cause my 10 year old to still be wetting his pants?
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