Metabolic Disease Laboratory

Overview
The Metabolic Disease Laboratory provides services for the diagnosis of lysosomal storage diseases. The laboratory provides screening of urine for glycosaminoglycans, oligosaccharides, sialic acid, sulfated monosaccharide's, and enzyme studies for the diagnosis of all of the mucopolysaccharidoses. Enzyme studies for diagnosis of selected glycoprotein storage diseases and glycosphingolipidoses are provided also. The Laboratory establishes cell lines from skin biopsies for enzyme studies. In addition, the Laboratory provides enzyme and/ or urine glycosaminoglycan studies for the monitoring of patients who have been treated for mucopolysaccharidoses.

General information
Price information and CPT codes (pdf)
Requisition/patient history form (pdf)

Laboratory hours
Monday–Thursday (except holidays), 8:00 a.m.–5:00 p.m.
Special arrangements can be made with prior notification of the laboratory—call (205) 934-6370.

Shipping address for laboratory samples
UAB Metabolic Disease Laboratory
UAB Health Services Foundation
Kaul Building, Room 648
720 20th Street South
Birmingham, AL 35233

Contact information
S. Lane Rutledge, MD, FACMG 
Kaul Building, Room 210B
720 20th Street South
Birmingham, AL 35233
Phone: (205) 934-6370
Fax: (205) 975-2742 

Testing for lysosomal storage diseases
  • Urinary mucopolysaccharide (glycosaminoglycan) analysis 

Quantization by uronic acid and N-sulfate nalysis; qualitative analysis by electrophoresis

  • Urinary oligosaccharide analysis

Oligosaccharides are separated by thin layer chromatography and visualized by orcinol/resorcinol staining.

  • Lysosomal enzyme analysis

A battery of 21 lysosomal enzyme assays (list of enzymes attached) can be performed for diagnosis of all of the known mucopolysaccharidoses and selected other lysosomal storage diseases. All studies can be performed with cultured skin fibroblasts, and certain enzymes can be studied with white blood cells or serum/plasma.


Collection of the specimen

  • Urine for mucopolysaccharide (glycosaminoglycan) analysis

Fresh random urine specimen (20-50 ml) should be collected, frozen, and shipped on dry ice by overnight express to the laboratory.

  • Urine for oligosaccharide analysis

A fresh random urine specimen (20 ml) should be collected, frozen, and shipped on dry ice by overnight express to the laboratory.

  • Skin biopsy for developing cultured skin fibroblasts for enzyme assay

Skin biopsy can be taken with a sterile 3-5 mm punch. The skin should be cleaned with ethanol only (do not use other cleaning agents). The biopsy should be placed into sterile cell culture medium (any complete medium will do, e.g., McCoy 5a, MEM, RPMI 1640, F-10 or F-12) and shipped at room temperature (DO NOT FREEZE). Please avoid placing the biopsy into saline. It is difficult to develop a cell line from a biopsy that has been stored in saline for any length of time.

  • Skin fibroblasts (cultured for enzyme assay)

Two T-25 cm² flasks of cultured cells from the patient are required. The cultured fibroblasts should be in the second or third passage, i.e., each culture should be trypsinized twice. Please be sure each flask contains the patient's name and the date of the previous subculture (trypsinization).

  • Heparinized blood for enzyme assay

Sodium heparinized blood (5-10 ml) should be collected and sent to the laboratory at room temperature by overnight express priority.

  • Serum enzyme assay

Serum (2-4 ml) should be separated from clotted blood, frozen, and shipped on dry ice to the laboratory by overnight express priority.


Preparation of specimen for shipment

Please label patient tubes or flasks with patient name and when a control is included, make sure the control is well marked as control (please do not include the patient's name on the control specimen label). Please submit a patient history form (pdf) for each patient specimen or fax the information to (205) 975-2742.