1. Diseases
  2. Pyruvate carboxylase deficiency, severe neonatal type

Pyruvate carboxylase deficiency, severe neonatal type

Disease Export to PDF
Name:
Pyruvate carboxylase deficiency, severe neonatal type
Description:
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.
ORPHAcode:
353314
Synonyms:
Pyruvate carboxylase deficiency type B
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
PC
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14