Pyruvate carboxylase deficiency, severe neonatal type

Orpha code: 353314OMIM code: 266150

Definition

Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.

Disease data
Classification

Clinical subtype

Synonyms
Pyruvate carboxylase deficiency type B
Niedobór karboksylazy pirogronianowej typu B
ORPHA code
353314
OMIM code
266150
ICD10 code
E74.4
ICD11 code
-

No additional description.

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