About The Medical Condition Disease, Gaucher, Acute Neuronopathic
Find the definition of the medical term Disease, Gaucher, Acute Neuronopathic. Disease, Gaucher, Acute Neuronopathic defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Disease, Gaucher, Acute Neuronopathic
Disease, Gaucher, Acute Neuronopathic Medical Condition |
---|
What's The Definition Of The Medical Condition Disease, Gaucher, Acute Neuronopathic?
An autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase (see GLUCOSYLCERAMIDASE) featuring the pathological storage of glycosylceramide in mononuclear PHAGOCYTES (Gaucher Cells). The most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities. The neuronopathic forms are divided into infantile and juvenile forms. The infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly. The juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ATAXIA, myoclonic SEIZURES, and spasticity. The neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons. (From Baillieres Clin Haematol 1997 Dec;10(4):711-23; Menkes, Textbook of Child Neurology, 5th ed, p97)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Growth Hormone, Pituitary ‐ A small peptide hormone released by the anterior pituitary under…
- Wrongful Life ‐ In civil law a cause of action which alleges that a defendant…
- Osteogenic Sarcoma ‐ A sarcoma originating in bone-forming cells, affecting the ends…
- Mite, Harvest ‐ The larva of MITES of the genus Trombicula which attack humans…
- Bromouracil Deoxyriboside ‐ A nucleoside that substitutes for thymidine in DNA and thus acts…
- Remarriage ‐ The social institution involving legal and/or religious sanction…
- Vasoconstrictor Agents, Nasal ‐ Drugs designed to treat inflammation of the nasal passages, generally…
- Modern Histories, Early (Medicine) ‐ The period of the history of medicine from 1451 through 1600…
- Polymethyl Methacrylate, Isostatic ‐ Polymerized methyl methacrylate monomers which are used as sheets,…
- Myocardial Depressant Factor ‐ A low molecular weight peptide of about 800-1000 having a negative…