Most inborn errors of metabolism are autosomal recessive diseases. However, there are some exceptions.
Treatable and with manifestation in the CNS (intellectual disability).
- Cerebral creatine transporter deficiency (SLC6A2).
- X-linked adrenoleukodystrophy (ABCD1).
- Hunter syndrome (IDS).
- Ornithine transcarbamylase deficiency (OTC).
- Pyruvate dehydrogenase deficiency (PDHA1).
- PIGA-CDG.
- Phosphoribosylpyrophosphate synthetase deficiency (PRPS1).
- SLC35A2-CDG.
- Menkes syndrome (ATP7A).
Metabolic neuromuscular diseases.
For a complete list of all X-linked diseases, you can consult OMIM.