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

D-2-hydroxyglutarate dehydrogenase deficiency (D-2-hydroxyglutaric aciduria type 1) L-2-hydroxyglutarate dehydrogenase deficiency…
1.12.b

Disorders of non-mitochondrial metabolite repair

Ubiquitous glucose-6-phosphatase deficiency (Severe congenital neutropenia type 4; Dursun syndrome)

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