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Condition report · Metabolic

Pyruvate Dehydrogenase Deficiency

Inherited disorders affecting how cells use pyruvate, a key step in turning glucose into energy. They can cause lactic acidosis and neurological problems, and the right diet depends on the specific defect.

A condition report looks for rare variants known to cause the conditions it covers.

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The 3 conditions we analyse

Pyruvate Dehydrogenase Deficiency

Autosomal recessive

Caused by variants in PDHA1 (X-linked, often new in the child) or in PDHB, DLAT, PDHX, DLD, PDP1 or LIAS, which can cause lactic acidosis, developmental delay, seizures and movement problems.

What a diagnosis changes

Knowing allows a ketogenic diet, avoidance of high-carbohydrate loads, and thiamine for responsive forms.

Genes analysed

Also known as

PDH; PDHC; pyruvate decarboxylase deficiency; Pyruvate Dehydrogenase Complex Deficiency

Includes 7 related subtypes ↓
  • lipoic acid synthetase deficiency
  • pyruvate dehydrogenase E1-alpha deficiency
  • pyruvate dehydrogenase E1-beta deficiency
  • pyruvate dehydrogenase E2 deficiency
  • pyruvate dehydrogenase E3 deficiency
  • pyruvate dehydrogenase E3-binding protein deficiency
  • pyruvate dehydrogenase phosphatase deficiency
MONDO:0019169Orphanet 765MedGen 19610

Pyruvate Carboxylase Deficiency

Autosomal recessive

Caused by variants in PC, which can cause lactic acidosis, low blood sugar and developmental problems, ranging from severe neonatal to milder forms.

What a diagnosis changes

Knowing allows avoidance of fasting, prompt treatment of metabolic crises and specialist dietary management; the ketogenic diet must be avoided.

Genes analysed

Also known as

ataxia with lactic acidosis type 2; ataxia with lactic acidosis type II; Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency; Leigh syndrome due to PC deficiency; Leigh syndrome due to pyruvate carboxylase deficiency

Includes 3 related subtypes ↓
  • pyruvate carboxylase deficiency, benign type
  • pyruvate carboxylase deficiency, infantile form
  • pyruvate carboxylase deficiency, severe neonatal type
MONDO:0009949OMIM 266150Orphanet 3008MedGen 18801

Mitochondrial Pyruvate Carrier Deficiency

Autosomal recessive

Caused by variants in MPC1, which can cause lactic acidosis and developmental delay.

What a diagnosis changes

Knowing can end a diagnostic search and guide specialist dietary advice.

Genes analysed

Also known as

MPYCD

MONDO:0013877OMIM 614741Orphanet 447784MedGen 766521

Other metabolic conditions

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