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Dictionary » Galactosylceramide beta-galactosidase deficiency
 

Galactosylceramide beta-galactosidase deficiency

Introduction: Galactosylceramide beta-galactosidase deficiency

Description of Galactosylceramide beta-galactosidase deficiency

Galactosylceramide beta-galactosidase deficiency (medical condition): A rare inherited biochemical disorder involving the deficiency of an...more »

See also:

Krabbe leukodystrophy:
  »Introduction: Krabbe leukodystrophy
  »Symptoms of Krabbe leukodystrophy

Galactosylceramide beta-galactosidase deficiency: A degenerative disease of the central and peripheral nervous system caused by abnormal breakdown and turnover of myelin and marked by reduced galacosylceramide beta-galactosidase activity (EC 3.2.1.46). Two types based on the age of onset are recognized: Infantile-onset Krabbe disease is marked by the appearance of symptoms at ages 3-6 months, which include irritability, frequent crying, and increase of muscle tonus. They are followed by opisthotonos, less of tendon reflexes, visual failure, elevated cerebrospinal fluid proteins, and delayed nerve conduction velocity. Most infants die during the second year of life. Late-onset Krabbe disease (LOKD) has first symptoms at ages 5 to 10 years, consisting of focal neurological signs, hemiparesis, cerebellar ataxia, cortical blindness, and spastic paraplegia, followed by mental and physical deterioration. Some patients survive into adulthood.
Source: Diseases Database

Galactosylceramide beta-galactosidase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Galactosylceramide beta-galactosidase deficiency:

Galactosylceramide beta-galactosidase deficiency: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Galactosylceramide beta-galactosidase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Galactosylceramide beta-galactosidase deficiency, or a subtype of Galactosylceramide beta-galactosidase deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Galactosylceramide beta-galactosidase deficiency as a Disease

Galactosylceramide beta-galactosidase deficiency: Another name for Krabbe leukodystrophy (or close medical condition association).
  »Introduction: Krabbe leukodystrophy
  »Symptoms of Krabbe leukodystrophy

Galactosylceramide beta-galactosidase deficiency: Related Diseases

Galactosylceramide beta-galactosidase deficiency: Galactosylceramide beta-galactosidase deficiency is listed as a type of (or associated with) the following medical conditions in our database:

Symptoms of Galactosylceramide beta-galactosidase deficiency (Krabbe leukodystrophy)

Some of the symptoms of Galactosylceramide beta-galactosidase deficiency incude:

Galactosylceramide beta-galactosidase deficiency: Article Excerpts about Krabbe leukodystrophy

Krabbé disease is a rare, degenerative disorder of the central and peripheral ... (Source: excerpt from NINDS Krabbe Disease Information Page: NINDS)

Galactosylceramide beta-galactosidase deficiency: Related Disease Topics

These medical disease topics may be related to Galactosylceramide beta-galactosidase deficiency:

Terms associated with Galactosylceramide beta-galactosidase deficiency:

Terms Similar to Galactosylceramide beta-galactosidase deficiency:

Source: Diseases Database

Source - NIH

External links related to: Galactosylceramide beta-galactosidase deficiency

Source: Diseases Database

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