ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C53 — Inborn errors of energy metabolism
5C53.2 — Disorders of mitochondrial oxidative phosphorylation
5C53.20 — Mitochondrial DNA depletion syndromes

ICD-11 5C53.20 — Mitochondrial DNA depletion syndromes

The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterised by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form.

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.