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 "leukodystrophy" symptom

achondroplasia

adrenomyeloneuropathy

alexander disease

cadasil

canavan disease

carcinoma of the gallbladder

classical phenylketonuria

coats disease

fabry disease

gm1 gangliosidosis

krabbe disease

neonatal adrenoleukodystrophy

phenylketonuria

pyruvate dehydrogenase deficiency

wiskott-aldrich syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

This symptom has already been validated