Details of Disease | DrugMAP

General Information of Disease (ID: DIS2KKHU)

Disease Name	Pyruvate carboxylase deficiency, severe neonatal type
Synonyms	pyruvate carboxylase deficiency type B
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 Hierarchy	DIS6000W: Pyruvate carboxylase deficiency disease DIS2KKHU: Pyruvate carboxylase deficiency, severe neonatal type
Disease Identifiers	MONDO ID MONDO_0018142 UMLS CUI C5679929 MedGen ID 1842956 Orphanet ID 353314

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]
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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.