Phenotypic variability of krabbe disease across the lifespan.

[krabbe disease]

Krabbe disease (galactocerebrosidase deficiency ) is an inherited leukodystrophy that results in severe neurological defects due to altered myelination . Classically , disease onset is within the first year of life . Juvenile and adult-onset cases may have less classic presentations , making diagnosis difficult and often delayed . Here , we review the literature to demonstrate the hetereogeneity of presenting symptoms across all age groups . We also discuss diagnostic approach , emphasizing variation in biochemical , functional , and genetic results among Krabbe phenotypes . Better understanding of the various Krabbe disease phenotypes is critical to facilitate timely diagnosis and appropriate treatment of this clinically heterogeneous disorder .

Diseases
Validation

Diseases presenting "clinically heterogeneous disorder" symptom

cutaneous mastocytosis

krabbe disease

pyruvate dehydrogenase deficiency

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