5C53.20

ICD-11 MMS 2026-01

Mitochondrial DNA depletion syndromes

Description

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.

Index terms

  • Mitochondrial DNA depletion syndromes
  • mtDNA depletion syndrome
  • Mitochondrial DNA depletion syndrome, hepatocerebral form
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  • Navajo neurohepatopathy
  • Alpers-Huttenlocher syndrome
  • Alpers disease
  • Alpers disease or gray-matter degeneration
  • Alpers progressive sclerosing poliodystrophy
  • Alpers syndrome
  • Progressive neuronal degeneration of childhood with liver disease
  • 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
  • MNGIE - [Mitochondrial neurogastrointestinal encephalomyopathy] syndrome
  • Mitochondrial neurogastrointestinal encephalomyopathy
  • Fatal infantile lactic acidosis with methylmalonic aciduria
  • Congenital lactic acidosis

Exclusions from above levels

  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
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  • 5A81.1 – 5-alpha-reductase deficiency
  • LD28.01 – Marfan syndrome
  • LD28.1 – Ehlers-Danlos syndrome
  • LD2A.4 – androgen resistance syndrome
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

  • 5C53.21 – Multiple mitochondrial DNA deletion syndromes
  • 5C53.22 – Coenzyme Q10 deficiency
  • 5C53.23 – Mitochondrial protein translation defects
  • 5C53.24 – Leigh syndrome
  • 5C53.25 – Isolated ATP synthase deficiency
  • 5C53.2Y – Other specified disorders of mitochondrial oxidative phosphorylation
  • 5C53.2Z – Disorders of mitochondrial oxidative phosphorylation, unspecified

Foundation entity

Mitochondrial DNA depletion syndromes – http://id.who.int/icd/entity/1159345506

Part of: 5C53.2: Disorders of mitochondrial oxidative phosphorylation › 5C53: Inborn errors of energy metabolism › 05: Endocrine, nutritional or metabolic diseases