Metachromatic Arylsulfatase A 1–2 yr No Clear Normal Normal Profound loss of No Normal — Yes leukodystrophy
Fabry disease α-Galactosidase A Childhood, No Cloudy by — Liver may be Normal No Normal X-linked No (cerebrosidase) adolescence
Wolman disease Acid lipase Neonatal No Clear Normal Both enlarged Profound loss of No Inclusion in — Yes function
WBC ML II (I-cell Mannosyl Neonatal Yes Clouding — Liver often Profound loss of Oligosaccharides No Gingival No disease) phosphotransferase
Table 56-1 Lysosomal Storage Diseases—cont'd DISEASE (EPONYM) ENZYME DEFICIENCY CLINICAL ONSET DYSOSTOSIS MULTIPLEX CORNEA RETINA LIVER, SPLEEN CNS FINDINGS STORED MATERIAL IN URINE WBC/BONE MARROW COMMENT MULTIPLE FORMS Farber lipogranulo-matosis Acid ceramidase 1st 4 mo No Usually clear Cherry-red spots (12%) May be enlarged Normal or impaired Usually not — Arthritis, nodules Yes MUCOLIPIDOSES (ML) AND CLINICALLY RELATED DISEASE
Multiple sulfatase Many sulfatases 1–2 yr Yes Usually Usually Both enlarged Profound loss of Acid mucopoly-Alder-Reilly Ichthyosis Yes deficiency
Aspartylglyco-Aspartylglucos-6 mo Mild Clear Normal Early, not late Profound loss of Aspartylgluco-Inclusions in Develop No saminuria aminidase
Mannosidosis α-Mannosidase 1st mo Yes Cloudy — Liver enlarged Profound loss of Generally no Inclusions in Cataracts Yes function
Fucosidosis α-L-Fucosidase 1st mo Yes Clear May be Both enlarged Profound loss of Oligosaccharides Inclusions in — Yes pigmented commonly function
CNS, Central nervous system; WBC, white blood cell.
foreheads, flat orbital ridges, widely open fontanelles, hepatomegaly, and hypotonia. Other anomalies are common. Failure to thrive, seizures, and nystagmus develop early, and death occurs within the first year. Refsum disease, neonatal adrenoleukodystrophy, and malonic aciduria are examples of peroxisomal single-enzyme disorders. Diagnostic testing includes measurement of very long chain fatty acids in plasma and pipecolic acid in urine. Specific molecular testing, particularly for the disorders involving one in the series of PEX genes, is available for some disorders. Most of these conditions are untreatable; however, bone marrow transplant can be helpful in X-linked adrenoleukodystrophy before the onset of severe symptoms.