5C53.02

ICD-11 MMS 2026-01

Pyruvate dehydrogenase complex deficiency

Description

Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterised by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal to later-onset neurological disorders.

Index terms

  • Pyruvate dehydrogenase complex deficiency
  • Ataxia with lactic acidosis
  • PDC - [Pyruvate dehydrogenase complex] deficiency
Show allHide
  • ataxia with lactic acidosis 1
  • ataxia with lactic acidosis 2
  • pyruvate dehydrogenase deficiency
  • Pyruvate dehydrogenase complex E1-alpha subunit deficiency
  • Pyruvate decarboxylase deficiency
  • Pyruvate dehydrogenase complex E1 subunit deficiency
  • Pyruvate dehydrogenase complex E1-beta subunit deficiency
  • Pyruvate dehydrogenase complex E2 subunit deficiency
  • Dihydrolipoamide acetyltransferase deficiency
  • Dihydrolipolyllysine-residue acetyltransferase
  • Dihydrolipoyl acetyltransferase deficiency
  • Dihydrolipoyl transacetylase deficiency
  • Lipoate acetyltransferase deficiency
  • Lipoate transacetylase deficiency
  • Pyruvate dehydrogenase complex E3 subunit deficiency
  • Diaphorase deficiency
  • Dihydrolipoamide dehydrogenase deficiency
  • Dihydrolipoyl dehydrogenase deficiency
  • Lactic acidosis due to LAD deficiency
  • Lipoamide dehydrogenase deficiency
  • Lipoamide oxidoreductase deficiency
  • Pyruvate dehydrogenase complex E3-binding protein deficiency
  • Pyruvate dehydrogenase phosphatase deficiency
  • PDH - [Pyruvate dehydrogenase] phosphatase deficiency
  • Phosphopyruvate dehydrogenase phosphatase deficiency

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
Show allHide
  • 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

  • 5C53.00 – Pyruvate kinase deficiency
  • 5C53.01 – Lactate dehydrogenase deficiency
  • 5C53.03 – Pyruvate carboxylase deficiency
  • 5C53.0Y – Other specified disorders of pyruvate metabolism
  • 5C53.0Z – Disorders of pyruvate metabolism, unspecified

Foundation entity

Pyruvate dehydrogenase complex deficiency – http://id.who.int/icd/entity/1124597954

Part of: 5C53.0: Disorders of pyruvate metabolism › 5C53: Inborn errors of energy metabolism › 05: Endocrine, nutritional or metabolic diseases