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Pompe disease signs

A 40-year-old member asked:
Dr. William Singer
Pediatric Neurology 51 years experience
Enzyme replacement: Through biotechnology, enzyme replacement has been developed, which should stabilize the symptoms.
Dr. Heidi Fowler
Psychiatry 25 years experience
Pompe Disease: Pompe disease. can be addressed through enzyme replacement therapy with intravenous recombinant human acid alpha -glucosidase & supportive therapi... Read More

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A 47-year-old member asked:
Dr. Vered Lewy-Weiss
A Verified Doctoranswered
A US doctor answeredLearn more
Glycogen Storage: A genetic disease where there is accumulation of glycogen in muscle, heart, and liver because of a deficiency in the enzyme, acid maltase, which helps... Read More
Dr. Luis Gonzalez-mendoza
Pediatric Endocrinology 42 years experience
Glycogen storage: Pompes disease is a glygogen storage disorder type ii , due to lack of an enzyme glycogen ( the way you store glucose in muscle and liver) can not be ... Read More
Dr. Heidi Fowler
Psychiatry 25 years experience
Pompe Disease: Pompe Disease is a rare genetic disorder (1 in 40,000 births) in which an enzyme called acid alpha-glucosidase either doesn't function correctly or th... Read More
A 40-year-old member asked:
Dr. Vered Lewy-Weiss
A Verified Doctoranswered
A US doctor answeredLearn more
GSD type II: This website will be helpful: http://www.Ninds.Nih.Gov/disorders/pompe/pompe.Htm.
Dr. Heidi Fowler
Psychiatry 25 years experience
Pompe Disease: Pompe Disease is a rare genetic disorder (1 in 40,000 births) in which an enzyme called acid alpha-glucosidase either doesn't function correctly or th... Read More
A 39-year-old member asked:
Dr. Johanna Fricke
Developmental and Behavioral Pediatrics 50 years experience
Mutations of a gene : on Chromosome 17q25.3 that codes for a lysosomal enzyme that breaks down glycogen cause Glycogen Storage Disease Type II or Pompe Disease subtypes . I... Read More
A 29-year-old male asked:
Dr. Alan Ali
Dr. Alan Alianswered
Psychiatry 32 years experience
Pompe disease: Is glycogen storage disease type 2. Is an autosomal recessive metabolic disorder with muscle & nerve cell damage, leading to muscle weakness & myopat... Read More
A 60-year-old male asked:
Dr. James Ferguson
Pediatrics 46 years experience
No: The chances of it making any difference now are negligible. You don't have the disease or you wouldn't live to be a grandfather. It is passed as a rec... Read More
A 37-year-old member asked:
Dr. John Barbuto
Specializes in Neurology
Long build up: I'm not a geneticist; and, there are good references on this subject easily available on the net. However, a quick answer is long build-up. The dise... Read More
A 44-year-old member asked:
Dr. Gamal Boutros
Neurology 39 years experience
Yes: Bacterial infection--need antibiotics--may need drainage.
A 35-year-old member asked:
Dr. Jeffrey Miller
Rheumatology 51 years experience
Fingers change color: Fingers with cold get white then purple than red usually with pain.
A 42-year-old member asked:
Dr. Samuel Freedman
Pediatrics 9 years experience
Addison's : Adrenal insufficiency with low cortisol levels causes hypoglycemia, low blood pressure and inability to respond to physiologic stress. Electrolyte abn... Read More

90,000 U.S. doctors in 147 specialties are here to answer your questions or offer you advice, prescriptions, and more. Get help now:

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