1.12

Disorders of metabolite repair/proofreading

This group comprises a small number of diseases that are cause by deficiencies in enzymes related to metabolite repair and proofreading, both mitochondrial and non- mitochondrial. Disorders belonging to this group show variable clinical manifestations, ranging from mild to severe phenotype. Common symptoms might include failure to thrive, microcephaly, aciduria, developmental delay and dysmorphic features.

1.12.a

Disorders of mitochondrial metabolite repair

This section covers rare inherited disorders of mitochondrial metabolite repair,…
1.12.b

Disorders of non-mitochondrial metabolite repair

This section covers disorders of non-mitochondrial metabolite repair, a group…

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