Details of Disease | DrugMAP

General Information of Disease (ID: DIS6000W)

Disease Name	Pyruvate carboxylase deficiency disease
Synonyms	ataxia with lactic acidosis 2; pyruvate carboxylase deficiency; Pc deficiency; deficiency of pyruvic carboxylase; ataxia with lactic acidosis type II; pyruvate carboxylase deficiency disease; Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency; Leigh syndrome due to PC deficiency; ataxia with lactic acidosis type 2; Leigh syndrome due to pyruvate carboxylase deficiency
Definition	Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.
Disease Hierarchy	DISNTY2N: Disorder of gluconeogenesis DIS6000W: Pyruvate carboxylase deficiency disease
Disease Identifiers	MONDO ID MONDO_0009949 MESH ID D015324 UMLS CUI C0034341 OMIM ID 266150 MedGen ID 18801 Orphanet ID 3008 SNOMED CT ID 87694001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
OGDH	TTH8T6I	moderate	Biomarker	[1]
SERPIND1	TT8XSKJ	moderate	Biomarker	[2]
CA5A	TT75WPO	Strong	Biomarker	[3]
PROC	TTZUXYS	Strong	Biomarker	[4]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A10	DTJYKDQ	moderate	Biomarker	[5]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PROS1	OTXQWNOI	Strong	Biomarker	[6]
PC	OT6O0V51	Definitive	Autosomal recessive	[7]
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References

1	Metabolic intermediates in lactic acidosis: compounds, samples and interpretation.J Inherit Metab Dis. 1996;19(4):478-88. doi: 10.1007/BF01799109.
2	Two cases of inherited triple deficiency in a large kindred with thrombotic diathesis and deficiencies of antithrombin III, heparin cofactor II, protein C and protein S.Thromb Haemost. 1991 Sep 2;66(3):295-9.
3	Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. Am J Hum Genet. 2014 Mar 6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006. Epub 2014 Feb 13.
4	Acquired Versus Congenital Neonatal Purpura Fulminans: A Case Report and Literature Review.J Pediatr Hematol Oncol. 2018 Nov;40(8):625-627. doi: 10.1097/MPH.0000000000001150.
5	Gene targeting in hemostasis: protein C.Front Biosci. 2001 Jul 1;6:D807-19. doi: 10.2741/castelli.
6	Alterations of anticoagulant proteins and soluble endothelial protein C receptor in thalassemia patients of Chinese origin.Thromb Res. 2018 Dec;172:61-66. doi: 10.1016/j.thromres.2018.10.016. Epub 2018 Oct 18.
7	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.