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| Additional findings_Adult v1.69 | CPT2 | Zornitza Stark Marked gene: CPT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.69 | CPT2 | Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.69 | CPT2 | Zornitza Stark Classified gene: CPT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.69 | CPT2 | Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.68 | CPT2 |
Zornitza Stark gene: CPT2 was added gene: CPT2 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced, MIM# 255110 Review for gene: CPT2 was set to GREEN Added comment: Variable age of onset and severity. Adult form tends to be myopathic. The recommendation for treatment of CPT II deficiency is to follow current treatment for long-chain FAO disorders: - Reduce the amount of long-chain dietary fat (<20%) while covering the need for essential fatty acids - Provide carnitine to convert potentially toxic long-chain acyl-CoAs to acylcarnitines - Provide a large fraction of calories as carbohydrates (70%) to reduce body fat utilization and prevent hypoglycaemia - Provide approximately one third of calories as even-chain medium chain triglycerides (MCT) Sources: Expert list |
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