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pyruvate carboxylase deficiency disease (DOID:3651)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +   
adrenoleukodystrophy +   
adult-onset ataxia and polyneuropathy  
Asparagine Synthetase Deficiency  
Bjornstad syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
carbamoyl phosphate synthetase I deficiency disease  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
Childhood Myocerebrohepatopathy Spectrum  
childhood onset GLUT1 deficiency syndrome 2  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
coenzyme Q10 deficiency disease +   
combined oxidative phosphorylation deficiency +   
congenital disorder of glycosylation +   
congenital lactase deficiency  
congenital sucrase-isomaltase deficiency  
Cowden-Like Syndrome  
creatine transporter deficiency  
CST3-related cerebral amyloid angiopathy +   
cytochrome-c oxidase deficiency disease +   
D-glyceric aciduria  
deafness-dystonia-optic neuronopathy syndrome  
Defect of Tricarboxylic Acid Cycle 
Deoxyguanosine Kinase Deficiency  
developmental and epileptic encephalopathy 39  
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
ethylmalonic encephalopathy  
Friedreich ataxia +   
Fructose and Galactose Intolerance 
Fructose Metabolism, Inborn Errors +   
fructose-1,6-bisphosphatase deficiency +   
galactosemia +   
glucose metabolism disease +   
Glucose-Galactose Malabsorption  
glucosephosphate dehydrogenase deficiency +   
GLUT1 Deficiency Syndrome  
glycerol kinase deficiency  
glycine encephalopathy +   
glycogen metabolism disorder +   
glycoproteinosis +   
GRACILE syndrome  
Hartnup disease  
Hereditary Central Nervous System Demyelinating Diseases +   
HMG-CoA synthase 2 deficiency  
homocystinuria +   
Hyperglycinemia, Lactic Acidosis, and Seizures  
hyperinsulinemic hypoglycemia +   
hyperlysinemia +   
Hypermetabolism due to Defect in Mitochondria 
hypomyelinating leukodystrophy 4  
hypotonia-cystinuria syndrome  
intestinal disaccharidase deficiency 
Lactate Dehydrogenase Deficiency 
lactose intolerance +   
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Leber hereditary optic neuropathy +   
Leigh disease +   
Lesch-Nyhan syndrome +   
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Lysosomal Storage Diseases, Nervous System +   
Mannosidase Deficiency Diseases +   
maple syrup urine disease +   
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
MELAS syndrome +   
Menkes disease +   
MERRF Syndrome +   
mevalonic aciduria  
Microphthalmia and Mental Deficiency 
Mitochondrial Cardiomyopathy  
mitochondrial complex I deficiency +   
mitochondrial complex II deficiency +   
mitochondrial complex III deficiency +   
mitochondrial complex V (ATP synthase) deficiency +   
Mitochondrial Cytopathy +   
mitochondrial DNA depletion syndrome +   
Mitochondrial Phosphate Carrier Deficiency  
mitochondrial pyruvate carrier deficiency  
mucopolysaccharidosis +   
multiple acyl-CoA dehydrogenase deficiency +   
multiple carboxylase deficiency +   
multiple mitochondrial dysfunctions syndrome +   
Myopathy with Giant Abnormal Mitochondria 
Myopathy with Storage of Glycoproteins and Glycosaminoglycans 
Myopathy, Cataract, Hypogonadism Syndrome 
Noninsulin-Dependent Diabetes Mellitus with Deafness  
oculocerebrorenal syndrome +   
Ogden syndrome  
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
optic atrophy 1  
Parkinson's Disease, Mitochondrial  
Pearson syndrome  
phenylketonuria +   
PHGDH deficiency  
Phosphoenolpyruvate Carboxykinase Deficiency +   
primary hyperoxaluria +   
Progressive External Ophthalmoplegia with Hypogonadism 
Proximal Myopathy with Focal Depletion of Mitochondria 
pyruvate carboxylase deficiency disease +   
A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis. (DO)
pyruvate decarboxylase deficiency +   
pyruvate kinase deficiency of red cells  
Pyruvate Metabolism, Inborn Errors +   
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Refsum disease +   
Ribose 5-Phosphate Isomerase Deficiency  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Silengo Lerone Pelizza Syndrome 
Spinocerebellar Ataxia with Epilepsy  
Storage of Unusual Polysaccharide 
Succinate-Coa Ligase Deficiency +   
Transaldolase Deficiency  
Trehalase Deficiency  
tyrosinemia +   
urea cycle disorder +   
VDAC Deficiency 
very long chain acyl-CoA dehydrogenase deficiency  
Wilson disease +   
Wolfram syndrome 2  
Xylosidase Deficiency 
Zellweger syndrome +   

Exact Synonyms: PC deficiency ;   ataxia with lactic acidosis 2 ;   ataxia with lactic acidosis II ;   deficiency of pyruvic carboxylase ;   pyruvate carboxylase deficiency ;   type II ataxia with lactic acidosis
Primary IDs: MESH:D015324
Alternate IDs: OMIM:266150
Xrefs: EFO:1001142 ;   NCI:C85040
Definition Sources: "DO" "DO", "DO" "DO"

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