ZFIN Human Disease: pyruvate decarboxylase deficiency

OBO ID: DOID:3649

Term Name:	pyruvate decarboxylase deficiency		Search Ontology:
Synonyms:	deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency
Definition:	A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. (3)
References:	GARD:4620 GARD:7513 ICD10CM:E74.4 MESH:D015325 NCI:C103968 OMIM:245348 OMIM:245349 OMIM:312170 OMIM:608782 OMIM:614111 ORDO:79243 SNOMEDCT_US_2023_03_01:46683007 UMLS_CUI:C0034345
Ontology:	Human Disease ( DOID:3649 )

Relationships

is a type of:	carbohydrate metabolic disorder carbohydrate metabolic disorder Show first 5 Terms

OTHER pyruvate decarboxylase deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DLAT	dlat	Pyruvate dehydrogenase E2 deficiency	245348
PDHA1	pdha1a pdha1b	Pyruvate dehydrogenase E1-alpha deficiency	312170
PDHB	pdhb	Pyruvate dehydrogenase E1-beta deficiency	614111
PDHX	pdhx	Lacticacidemia due to PDX1 deficiency	245349
PDP1	pdp1	Pyruvate dehydrogenase phosphatase deficiency	608782

ZEBRAFISH MODELS

Fish	Conditions	Citations
dlat^a13/a13 (AB)	standard conditions	Taylor et al., 2004
dlat^m631/m631	standard conditions	Ferriero et al., 2013

PHENOTYPE No data available

CITATIONS (2)