When the characteristic symptoms of<unk>  are suspected, patients can undergo specific testing to confirm their diagnosis. One common method includes enzyme assays which measure the activity of neuraminidase-1 and beta-galactosidase. Decreased levels in enzymatic activity indicate a deficiency in cathepsin A. A complete urinalysis can be performed to detect the presence of oligosaccharides, which would pass through the urine as excess amounts accumulate within cells due to lysosomal dysfunction. A diagnosis can more specifically be confirmed through molecular genetic analysis, which is used to identify a mutation in the CTSA gene. Once a mutation is detected, the results are combined with a clinical exam and patient symptoms to fully diagnosis<unk> . The age of the patient at the onset of symptoms is used to determine the specific disease subtype of the patient: early infantile patients are diagnosed between birth and 3 months of age, late infantile patients are diagnosed between 3-12 months of age, and juvenile/adult patients are normally diagnosed in adolescence when symptoms begin. A prenatal diagnosis was made by Kleijer et al. in 1979 by measuring beta-galactosidase and neuraminidase activities in cultured amniotic fluid cells.
Galactosialidosis
Beta-mannosidosis
Alpha-mannosidosis
Hereditary fructose intolerance
Gangliosidosis
Sialidosis
Aspartylglucosaminuria
Essential fructosuria