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Inherited Metabolic Disease Laboratory - C21, NGSH

The Inherited Metabolic Disease section provides a diagnostic service for a wide range of inborn errors of metabolism diseases which broadly fall into the following groups:

 (MELAS, MERRF, NARP, Leigh syndrome, LHON, and pyruvate dehydrogenase complex deficiency), homocysteine metabolism, ketone body utilisation disorders, purine and pyrimidine metabolism, amino acidurias, urea cycle defects, and molecular defects in the epithelial sodium channel (ENaC) and  thiopurine 
S-methyltransferase gene.

PDF  mitochondrial myopathies


Online database of tests offered through the NHLS for diagnosis and management of inborn errors of metabolism.


Contact us at:

Tel:    +27-21-4044449
Fax:    +27-21-4044472
email:   Ms Surita Meldau 

This section also offers a comprehensive tissue culture service and metabolic assays. 
For further information contact:
Prof David Marais tel 406-6185

Screening for drugs of abuse are performed in the Department of Pharmacology.