Pyruvate carboxylase deficiency, benign type

Orpha code: 353320OMIM code: 266150

Definition

Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.

Disease data
Classification

Clinical subtype

Synonyms
Pyruvate carboxylase deficiency type C
Niedobór karboksylazy pirogronianowej typu C
ORPHA code
353320
OMIM code
266150
ICD10 code
E74.4
ICD11 code
-

No additional description.

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