Pyruvate carboxylase deficiency, infantile type

Orpha code: 353308OMIM code: 266150

Definition

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.

Disease data
Classification

Clinical subtype

Synonyms
Pyruvate carboxylase deficiency type A
Niedobór karboksylazy pirogronianowej typu A
ORPHA code
353308
OMIM code
266150
ICD10 code
E74.4
ICD11 code
-

No additional description.

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