ASPARTYLGLUCOSAMINO AMINOHYDROLASE

Aspartylglucosaminuria

BIOCHEMICAL ANALYSIS


The deficiency of 4-L-aspartylglycosylamine amido hydrolase results in aspartylglucosaminuria. This protocol utilizes a natural substrate for the enzyme. The release of glucosamine is measured colorimetrically following reaction with dimethylamino-benzaldehyde.

Specimen Requirements:

The assay is performed on cultured skin fibroblasts only. For fibroblasts, send two T25 flasks of confluent cells in an insulated container by overnight carrier.

Normal Range:

Skin Fibroblasts: 74-362 pmol/min/mg protein

Turnaround Time:

2-10 days
Skin fibroblasts assays are growth dependent.

CPT Codes and Prices:

82657, 84155, 84311, 88233, 88240

Shipping Information


Forms:

>> Biochemical Requisition

Test Codes:

4514