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5C53.20 Mitochondrial DNA depletion syndromes

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

code elsewhere

• Childhood-onset autosomal dominant optic atrophy  (9C40.8)

synonyms

• Mitochondrial DNA depletion syndromes
• mtDNA depletion syndrome
• Mitochondrial DNA depletion syndrome, hepatocerebral form
• Navajo neurohepatopathy
• Alpers-Huttenlocher syndrome
• Progressive neuronal degeneration of childhood with liver disease
• Alpers progressive sclerosing poliodystrophy
• Alpers syndrome
• Alpers disease
• Alpers disease or gray-matter degeneration
• Mitochondrial DNA depletion syndrome, myopathic form
• Mitochondrial DNA depletion syndrome, encephalomyopathic form
• Encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria
• Encephalomyopathic mitochondrial DNA depletion syndrome with renal tubulopathy
• Mitochondrial encephalomyopathy - aminoacidopathy
• Booth-Haworth-Dilling syndrome
• Myoneurogastrointestinal encephalopathy syndrome
• Mitochondrial neurogastrointestinal encephalomyopathy
• MNGIE - [Mitochondrial neurogastrointestinal encephalomyopathy] syndrome
• Fatal infantile lactic acidosis with methylmalonic aciduria
• Congenital lactic acidosis

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