Find information on thousands of medical conditions and prescription drugs.

Pompe's disease

Glycogen storage disease type II (also called Pompe disease or infantile acid maltase deficiency) is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), which is needed to break down glycogen, a stored form of sugar used for energy. It is the only glycogen storage disease with a defect in lysosomal metabolism, and was the first glycogen storage disease to be identified—in 1932. The build-up of glycogen causes progressive muscle weakness throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and nervous system. Transmission is by autosomal recessive inheritance. more...

Home
Diseases
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Arthritis
Arthritis
Bubonic plague
Hypokalemia
Pachydermoperiostosis
Pachygyria
Pacman syndrome
Paget's disease of bone
Paget's disease of the...
Palmoplantar Keratoderma
Pancreas divisum
Pancreatic cancer
Panhypopituitarism
Panic disorder
Panniculitis
Panophobia
Panthophobia
Papilledema
Paraganglioma
Paramyotonia congenita
Paraphilia
Paraplegia
Parapsoriasis
Parasitophobia
Parkinson's disease
Parkinson's disease
Parkinsonism
Paroxysmal nocturnal...
Patau syndrome
Patent ductus arteriosus
Pathophobia
Patterson...
Pediculosis
Pelizaeus-Merzbacher disease
Pelvic inflammatory disease
Pelvic lipomatosis
Pemphigus
Pemphigus
Pemphigus
Pendred syndrome
Periarteritis nodosa
Perinatal infections
Periodontal disease
Peripartum cardiomyopathy
Peripheral neuropathy
Peritonitis
Periventricular leukomalacia
Pernicious anemia
Perniosis
Persistent sexual arousal...
Pertussis
Pes planus
Peutz-Jeghers syndrome
Peyronie disease
Pfeiffer syndrome
Pharmacophobia
Phenylketonuria
Pheochromocytoma
Photosensitive epilepsy
Pica (disorder)
Pickardt syndrome
Pili multigemini
Pilonidal cyst
Pinta
PIRA
Pityriasis lichenoides...
Pityriasis lichenoides et...
Pityriasis rubra pilaris
Placental abruption
Pleural effusion
Pleurisy
Pleuritis
Plummer-Vinson syndrome
Pneumoconiosis
Pneumocystis jiroveci...
Pneumocystosis
Pneumonia, eosinophilic
Pneumothorax
POEMS syndrome
Poland syndrome
Poliomyelitis
Polyarteritis nodosa
Polyarthritis
Polychondritis
Polycystic kidney disease
Polycystic ovarian syndrome
Polycythemia vera
Polydactyly
Polymyalgia rheumatica
Polymyositis
Polyostotic fibrous...
Pompe's disease
Popliteal pterygium syndrome
Porencephaly
Porphyria
Porphyria cutanea tarda
Portal hypertension
Portal vein thrombosis
Post Polio syndrome
Post-traumatic stress...
Postural hypotension
Potophobia
Poxviridae disease
Prader-Willi syndrome
Precocious puberty
Preeclampsia
Premature aging
Premenstrual dysphoric...
Presbycusis
Primary biliary cirrhosis
Primary ciliary dyskinesia
Primary hyperparathyroidism
Primary lateral sclerosis
Primary progressive aphasia
Primary pulmonary...
Primary sclerosing...
Prinzmetal's variant angina
Proconvertin deficiency,...
Proctitis
Progeria
Progressive external...
Progressive multifocal...
Progressive supranuclear...
Prostatitis
Protein S deficiency
Protein-energy malnutrition
Proteus syndrome
Prune belly syndrome
Pseudocholinesterase...
Pseudogout
Pseudohermaphroditism
Pseudohypoparathyroidism
Pseudomyxoma peritonei
Pseudotumor cerebri
Pseudovaginal...
Pseudoxanthoma elasticum
Psittacosis
Psoriasis
Psychogenic polydipsia
Psychophysiologic Disorders
Pterygium
Ptosis
Pubic lice
Puerperal fever
Pulmonary alveolar...
Pulmonary hypertension
Pulmonary sequestration
Pulmonary valve stenosis
Pulmonic stenosis
Pure red cell aplasia
Purpura
Purpura, Schoenlein-Henoch
Purpura, thrombotic...
Pyelonephritis
Pyoderma gangrenosum
Pyomyositis
Pyrexiophobia
Pyrophobia
Pyropoikilocytosis
Pyrosis
Pyruvate kinase deficiency
Uveitis
Q
R
S
T
U
V
W
X
Y
Z
Medicines

Children have a 1 in 4 chance of inheriting the disease when both parents carry the abnormal gene. It is estimated to occur in about 1 in 40,000 births.

Variants

Pompe disease has three forms defined by age of onset and progression of symptoms:

Infantile, or early onset, is noticed shortly after birth. Symptoms include severe lack of muscle tone, weakness, and enlarged liver and heart. Mental function is not affected. Development appears normal for the first weeks or months but slowly declines as the disease progresses. Swallowing may become difficult and the tongue may protrude and become enlarged. Most children die from respiratory or cardiac complications before 2 years of age.

Juvenile onset symptoms appear in early to late childhood and include progressive weakness of respiratory muscles in the trunk, diaphragm and lower limbs, as well as exercise intolerance. Intelligence is normal. Most patients do not live beyond the second or third decade of life.

Adult onset symptoms also involve generalized muscle weakness and wasting of respiratory muscles in the trunk, lower limbs, and diaphragm. Many patients report respiratory distress, headache at night or upon waking, diminished deep tendon reflexes, and proximal muscle weakness, such as difficulty in climbing stairs. Intellect is not affected. A small number of adult patients live without major symptoms or limitations

Treatment

Cardiac and respiratory complications are treated symptomatically. Physical and occupational therapy may be beneficial for some patients. Alterations in diet may provide temporary improvement but will not alter the course of the disease. Genetic counseling can provide families with information regarding risk in future pregnancies.

Prognosis

The prognosis for individuals with Pompe disease varies according to the onset and severity of symptoms. The disease is particularly lethal in infants and young children.

Read more at Wikipedia.org


[List your site here Free!]


BIOMANUFACTURING Pharming to Build Milk Drug Plant - Pharming Group NV wins a EUR$2.7 million grant from the government of Flanders to expand Pharming's
From Applied Genetics News, 4/1/99

Pharming Group NV (Leiden, The Netherlands, PHAR) has been awarded a EUR$2.7 million grant from the government of Flanders to expand Pharming's facilities in Geel, Belgium, including a plant for the purification of biopharmaceuticals produced in the milk of transgenic animals. Both human C1 esterase inhibitor and alpha- glucosidase are produced in the milk of transgenic rabbits. In addition, FMN Finance Belgium NV is providing a secured lending and leasing facility of EUR$11.4 million to partially finance the completion of the pilot and main processing facilities. "The Government of Flanders is very actively supporting the biotechnology industry in this region," notes Rein Strijker, vice president and managing director of Pharming NV, Belgium. "In our new facilities, we will produce biopharmaceuticals for patients around the world, while continuing to invest in research and development of therapies for unmet medical needs." Pharming NV is a subsidiary of Pharming Group NV and concentrates on the development of treatments for rare ("orphan") diseases for which there are often no existing therapies. The first biopharmaceutical to be produced at the new plant will be human alpha-glucosidase for the treatment of Pompe's disease, a lethal hereditary muscle disorder. A phase II clinical trial of the drug is now underway at Sophia Children's hospital in Rotterdam, The Netherlands. Multicenter pivotal trials are expected to begin later this year in both Europe and the U.S. Another biopharmaceutical under development by Pharming is human C1 Esterase inhibitor, for the treatment of hereditary angioedema, a disorder that results in a runaway reaction of the immune system. Between 10,000 and 50,000 people in the western world are affected by hereditary angioedema. The first human trials of the C1 esterase inhibitor are expected to start in the year 2000. The FDA recently granted orphan drug designation for C1 esterase inhibitor in the prophylaxis and treatment of hereditary and acquired angioedema.

COPYRIGHT 1999 Business Communications Company, Inc.
COPYRIGHT 2004 Gale Group

Return to Pompe's disease
Home Contact Resources Exchange Links ebay