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Pyruvate carboxylase deficiency, benign type

Disease Export to PDF
Name:
Pyruvate carboxylase deficiency, benign type
Description:
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.
ORPHAcode:
353320
Synonyms:
Pyruvate carboxylase deficiency type C
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
PC
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14