Name: Infantile Krabbe Disease (en Inglés)
SKU: 62150130
Price: 57.07 USD
Availability: InStock
Author: Emna Ellouz; Imen Ketata

portada Infantile Krabbe Disease (en Inglés)

Formato

Libro Físico

Editorial

Our Knowledge Publishing

Autor

Emna Ellouz; Imen Ketata

Idioma

Inglés

N° páginas

Encuadernación

Tapa Blanda

ISBN13

9786207620302

Infantile Krabbe Disease (en Inglés)

Emna Ellouz; Imen Ketata (Autor) · Our Knowledge Publishing · Tapa Blanda

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Reseña del libro "Infantile Krabbe Disease (en Inglés)"

Krabbe disease (MK), first described by Knud Krabbe in 1916, is a metabolic leukodystrophy caused by lysosomal overload. It is a rare, inherited autosomal recessive disease. It is caused by a mutation in the GALC gene leading to a deficiency in the GALC enzyme, which causes PSY to accumulate in lysosomes. MK presents a broad phenotypic spectrum, with signs that are sometimes non-specific, making diagnosis difficult. The most classic form is the early infantile form (MKIP). Main symptoms include non-specific general signs, axial hypotonia, stiffness, feeding difficulties and growth retardation. Cerebral MRI shows periventricular demyelinating leukodystrophy with a tigroid appearance. Diagnosis is confirmed by enzyme assay or genetic analysis. Stem cell or bone marrow transplantation can improve functional capacity and extend life expectancy. However, MKIP remains incurable, with death occurring before the age of 2.