Ornithine transcarbamylase deficiency
| Disorder | |
|---|---|
| OMIM #: | #311250 (Click to access OMIM database) |
| Disorder: | Ornithine transcarbamylase deficiency |
| Also known as: | ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY OTC DEFICIENCY |
| Clinical | |
| Phenotype: | hyperammonemia, protein avoidance, vomtigin, developmental delay, encephalopathy, respiratory alkalosis, abnormal amino acid levels |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | X-linked |
| Mutations | |
| 1 Amish | |
| Gene: | OTC |
| Base Change: | G>A, at nucleotide 422 |
| Amino Acid Change: | arg 141 --> gln |
| 2 Amish | |
| Gene: | OTC |
| Base Change: | c.298+1G >A |
| Amino Acid Change: | splicing defect |
| Last updated: | 2022-11-11 |
| References |
|---|
| Lynch MT, Maloney KA, Pollin TI, Streeten EA, Xu H; Regeneron Genetics Center, Shuldiner AR, Van Hout CV, Gonzaga-Jauregui C, Mitchell BD. (2021) The burden of pathogenic variants in clinically actionable genes in a founder population. Am J Med Genet A Aug 31. doi: 10.1002/ajmg.a.62472. PubMed ID: 34467620 |
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