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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.
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