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Krabbe disease

Disease Kostmann syndromeKrabbe leukodystrophy

Krabbe disease

Krabbe disease, also called globoid cell leukodystrophy (GCL), is a rare, inherited disorder that affects the central nervous system (CNS) and peripheral nervous system.

 


Krabbe disease
Definition
Krabbe disease is a rare genetic disorder of the nervous system. It is a type of leukodystrophy.

Krabbe disease
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Krabbe Disease
This disorder was described by a Danish neurologist Knud Haraldsen Krabbe in 1916. It is primarily a disease of the white matter in the brain but involves nerves throughout the body.
Clinical Correlations ...

Krabbe disease
Alternate Names : Globoid cell leukodystrophy, Galactosylcerebrosidase deficiency, Galactosylceramidase deficiency
Definition ...

NINDS Krabbe Disease Information Page
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What is Krabbe disease?
Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase.

What is Krabbe Disease?
In Krabbe disease, there is a lack of an enzyme called galactosylceramide beta-galactosidase (GALC); this enzyme breaks down several important compounds in the body.

Krabbe disease is a rare genetic disorder of the nervous system. It is a type of leukodystrophy.
Causes, incidence, and risk factors: ...

Krabbe disease
Introduction
Krabbe disease is a rare, inherited, often fatal disorder affecting the central nervous system. The disease can affect muscle tone and movement, and cause vision and hearing loss, among other effects.

Krabbe disease
Krabbe Leukodystrophy see Krabbe disease
Krause-Kivlin syndrome see Peters Anomaly/Peters Plus syndrome
Kufs disease (adult type) see Batten disease
Kugelberg-Welander disease see SpinalMuscular Atrophy ...

The disease was characterized and published by Bernard Jacob Alpers, Erna Christensen, and Knud Haraldsen Krabbe; thus, Alpers' disease is also known as Christensen's disease or Christensen-Krabbe disease.

Krabbe Disease (disorder of metabolism)
Meningitis
Seizures
Severe head injury
Stiff-person syndrome (a condition that involves worsening rigidity and spasms)
Subarachnoid hemorrhage (bleeding in the brain)
Tetanus ...

Christensen-Krabbe disease
Progressive Sclerosing Poliodystrophy
Alpers Progressive Infantile Poliodystrophy
Alpers Syndrome
Alpers-Huttenlocher Syndrome
Neuronal Degeneration Of Childhood With Liver Disease, Progressive (PNDC) ...

The changes to muscle tissue that characterize the disorder can also occur in association with many other disorders or conditions including other congenital muscle disorders, Krabbe disease, Lowe's syndrome, myotonic dystrophy, ...

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Krabbe disease
Marfan syndrome
Menkes syndrome
Metachromatic leukodystrophy
Methylmalonic acidemia
Muscular dystrophy
Myasthenia gravis
Myotonic dystrophy (a type of muscular dystrophy)
Phelan-McDermid syndrome (Deletion 22q13 syndrome) ...

The sphingolipidoses include six specific diseases: Niemann-Pick disease, Gaucher disease, Krabbe disease (globoid cell...
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Krabbe disease
Antithrombin III
Atrial myxoma - right
Point tenderness - abdomen
Endometrial cancer
Stroke secondary to cardiogenic embolism
Aicardi syndrome
Idiopathic hypercalciuria
Intravascular ultrasound
Cytology exam of urine ...

Krabbe disease (Globoid cell leukodystrophy)
Hip dysplasia
Legg-Calvé-Perthes syndrome
Craniomandibular osteopathy (Lion Jaw)
Von Willebrand disease
Hypothyroidism
Portosystemic shunt
Luxating patella
Entropion ...

Krabbe disease (globoid leukodystrophy) - this affects the myelin of the central and peripheral nervous systems. About 90 per cent of those affected are babies and symptoms usually show up before they are six months old.

See also: Symptom, Dystrophy, Leukodystrophy, Seizure, Seizures

Disease Kostmann syndromeKrabbe leukodystrophy

 
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