| Test: |
Medium chain acyl-Coenzyme A dehydrogenase deficiency |
| Alternate names: |
MCAD , ACADM |
| Description: |
The medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common enzyme deficiency in fatty acid oxidation. Patients with MCAD deficiency may present clinically as an acute encephalopathy. Apparent life threatening events (ALTEs) have also been reported. During symptomatic episodes, patients may have hypoketotic hypoglycemia. Symptoms are commonly precipitated by metabolic stress such as fasting or infection. An A to G transversion at nucleotide 985 of the cDNA coding region causing the change of amino acid lysine at position 304 to glutamate is the most common mutation in MCAD deficiency accounting for more than 80% of the mutant alleles. |
| Clinical: |
Common (K329E) Caucasian mutation only |
| Methodology: |
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| Turn around time: |
1 month |
| Transit stability: |
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| Comments: |
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| Sample: |
Blood EDTA 2 ml, dried blood spots or buccal swabs |
| Type: |
Genetics |
| Method: |
NOT GIVEN |
 |
|
| Consultant/scientist: |
Ms Surita Meldau |
| Tel: |
021 404 4449 |
| email: |
surita.meldau@nhls.ac.za |
|
|
| Contact for results: |
Ms Surita Meldau |
| Tel: |
021 404 4449 |
| email: |
surita.meldau@uct.ac.za |
|
|
| Delivery address |
C17 NHLS Labs, NGSH, Observatory, 7925 |
| for samples: |
Cape Town |
