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Pyruvate carboxylase deficiency, infantile type

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Name:
Pyruvate carboxylase deficiency, infantile type
Description:
Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.
ORPHAcode:
353308
Synonyms:
Pyruvate carboxylase deficiency type A
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
PC
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14