Details of Disease | DrugMAP

General Information of Disease (ID: DISAZN64)

Disease Name	Pyruvate carboxylase deficiency, infantile form
Synonyms	pyruvate carboxylase deficiency, infantile type; pyruvate carboxylase deficiency type A
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 Hierarchy	DIS6000W: Pyruvate carboxylase deficiency disease DISAZN64: Pyruvate carboxylase deficiency, infantile form
Disease Identifiers	MONDO ID MONDO_0018141 UMLS CUI C5679928 MedGen ID 1842180 Orphanet ID 353308

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PC	OT6O0V51	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Pyruvate Carboxylase Deficiency. 2009 Jun 2 [updated 2018 Mar 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.