Very long-chain acyl-CoA dehydrogenase deficiency
| Disorder | |
|---|---|
| OMIM #: | #201475 (Click to access OMIM database) |
| Disorder: | Very long-chain acyl-CoA dehydrogenase deficiency |
| Also known as: | VLCAD DEFICIENCY |
| Clinical | |
| Phenotype: | cardiomyopathy, sudden death, hepatomegaly, hypotonia, muscle weakness, hypoglycemia, dicarboxylic aciduria, decreased plasma carnitine |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | ACADVL |
| Base Change: | T>C, at nucleotide 848 |
| Amino Acid Change: | |
| Last updated: | 2022-11-12 |
| References |
|---|
| Personal communication; seen at CSC. |
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