1.11

Other disorders of mitochondrial function

This group includes disorders of mitochondrial shuttles and carriers, disorders of mitochondrial protein import, disorders of mitochondrial protein quality control, and various other mitochondrial conditions that either do not neatly fit into these categories or have yet to be fully understood. Common symptoms associated with these disorders may include epilepsy, intolerance to physical exercise, cardiomyopathy, and microcephaly.

1.11.a

Disorders of mitochondrial shuttles and carriers

Mitochondrial citrate carrier deficiency (Combined D-2- and L-2-hydroxyglutaric aciduria) Mitochondrial…
1.11.b

Disorders of mitochondrial protein import

TOMM70 deficiency TIMM8A deficiency (Mohr-Tranebjaerg syndrome) TIMM14 deficiency (Dilated cardiomyopathy…
1.11.c

Disorders of mitochondrial protein quality control

Mitochondrial-processing peptidase alpha deficiency (Autosomal recessive spinocerebellar ataxia type 2)…
1.11.d

Miscellaneous disorders associated with mitochondrial dysfunction

Mitochondrial inorganic pyrophosphatase 2 deficiency Mitochondrial thioredoxin 2 deficiency (Combined…

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