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Ontology Browser

Term:
pyruvate decarboxylase deficiency (DOID:3649)
Annotations: Rat: (11) Mouse: (11) Human: (11) Chinchilla: (11) Bonobo: (11) Dog: (11) Squirrel: (11) Pig: (11)
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +   
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
adrenoleukodystrophy +   
adult-onset ataxia and polyneuropathy  
Aldred Syndrome 
Allan-Herndon-Dudley syndrome  
alpha thalassemia-X-linked intellectual disability syndrome  
Arena Syndrome 
Asparagine Synthetase Deficiency  
Ataxia Neuropathy Spectrum  
Atkin Syndrome  
Bjornstad syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
carbamoyl phosphate synthetase I deficiency disease  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
Charcot-Marie-Tooth disease X-linked recessive 4  
Childhood Myocerebrohepatopathy Spectrum 
childhood onset GLUT1 deficiency syndrome 2  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
Chromosome Xp11.3 Deletion Syndrome  
CK Syndrome  
Clark-Baraitser Syndrome 
Classical Lissencephalies and Subcortical Band Heterotopias +   
coenzyme Q10 deficiency disease +   
Coffin-Lowry syndrome  
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  
Danon disease  
deafness-dystonia-optic neuronopathy syndrome  
Deoxyguanosine Kinase Deficiency  
early infantile epileptic encephalopathy 39  
encephalopathy due to defective mitochondrial and peroxisomal fission 1  
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
ethylmalonic encephalopathy  
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
FG syndrome +   
fragile X syndrome +   
Friedreich ataxia +   
Fructose and Galactose Intolerance 
Fructose Metabolism, Inborn Errors +   
fructose-1,6-bisphosphatase deficiency +   
fucosidosis  
galactosemia +   
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 +   
homocarnosinosis  
homocystinuria +   
Hyperglycinemia, Lactic Acidosis, and Seizures  
hyperinsulinemic hypoglycemia +   
hyperlysinemia +   
Hypermetabolism due to Defect in Mitochondria 
Hyperproglucagonemia 
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  
Lujan Fryns Syndrome  
Lysosomal Storage Diseases, Nervous System +   
Mannosidase Deficiency Diseases +   
maple syrup urine disease +   
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
MELAS syndrome +   
Menkes disease +   
Mental Retardation X-Linked, South African Type 
MENTAL RETARDATION, X-LINKED 1  
Mental Retardation, X-Linked 100  
Mental Retardation, X-Linked 101  
Mental Retardation, X-Linked 102  
Mental Retardation, X-Linked 103  
Mental Retardation, X-Linked 104  
Mental Retardation, X-Linked 105  
Mental Retardation, X-Linked 107  
Mental Retardation, X-Linked 108  
Mental Retardation, X-Linked 12  
Mental Retardation, X-Linked 14 
Mental Retardation, X-Linked 19  
Mental Retardation, X-Linked 2 
Mental Retardation, X-Linked 20 
Mental Retardation, X-Linked 21  
Mental Retardation, X-Linked 23 
Mental Retardation, X-Linked 3  
Mental Retardation, X-Linked 31  
Mental Retardation, X-Linked 42 
Mental Retardation, X-Linked 45  
Mental Retardation, X-Linked 46  
Mental Retardation, X-Linked 47  
Mental Retardation, X-Linked 49  
Mental Retardation, X-Linked 50  
Mental Retardation, X-Linked 53 
Mental Retardation, X-Linked 58  
Mental Retardation, X-Linked 61  
Mental Retardation, X-Linked 63  
Mental Retardation, X-Linked 72  
Mental Retardation, X-Linked 73 
Mental Retardation, X-Linked 77 
Mental Retardation, X-Linked 81 
Mental Retardation, X-Linked 82  
Mental Retardation, X-Linked 84 
Mental Retardation, X-Linked 88  
Mental Retardation, X-Linked 89  
Mental Retardation, X-Linked 9  
Mental Retardation, X-Linked 91  
Mental Retardation, X-Linked 92  
Mental Retardation, X-Linked 93  
Mental Retardation, X-Linked 95  
Mental Retardation, X-Linked 96  
Mental Retardation, X-Linked 97  
Mental Retardation, X-Linked 98  
Mental Retardation, X-Linked 99 +   
Mental Retardation, X-Linked, 41  
Mental Retardation, X-Linked, 90  
Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related 
Mental Retardation, X-Linked, Syp-Related 
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency  
Mental Retardation, X-Linked, with or without Seizures, Arx-Related  
MERRF Syndrome +   
mevalonic aciduria  
Microphthalmia and Mental Deficiency 
Microphthalmia, Syndromic 4  
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 +   
mucopolysaccharidosis II  
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 
Neonatal Severe Encephalopathy due to Mecp2 Mutations  
NGLY1-deficiency  
non-syndromic X-linked intellectual disability +   
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  
pentosuria  
phenylketonuria +   
PHGDH deficiency  
Phosphoenolpyruvate Carboxykinase Deficiency +   
Plagiocephaly and X-Linked Mental Retardation 
Ppm-X Syndrome 
primary hyperoxaluria +   
Progressive External Ophthalmoplegia with Hypogonadism 
Proximal Myopathy with Focal Depletion of Mitochondria 
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
pyruvate kinase deficiency of red cells  
Pyruvate Metabolism, Inborn Errors +   
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Refsum disease +   
Rett syndrome +   
Ribose 5-Phosphate Isomerase Deficiency  
Roifman Syndrome  
Sarcosinemia  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Silengo Lerone Pelizza Syndrome 
Spinocerebellar Ataxia with Epilepsy  
Stocco dos Santos Syndrome  
Storage of Unusual Polysaccharide 
Succinate-Coa Ligase Deficiency +   
syndromic X-linked intellectual disability +   
Tranebjaerg Svejgaard syndrome 
Transaldolase Deficiency  
Trehalase Deficiency  
Tricarboxylic Acid Cycle, Defect of 
triosephosphate isomerase deficiency  
tyrosinemia +   
urea cycle disorder +   
VDAC Deficiency 
very long chain acyl-CoA dehydrogenase deficiency  
Wilson disease +   
Wittwer Syndrome  
Wolfram syndrome 2  
X-linked intellectual disability-psychosis-macroorchidism syndrome  
X-linked mental retardation 106  
X-Linked Mental Retardation Gustavson Type 
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance  
X-Linked Mental Retardation with Panhypopituitarism  
Xylosidase Deficiency 
Zellweger syndrome +   

Synonyms
Exact Synonyms: Ataxia with Lactic Acidosis ;   Ataxia with Lactic Acidosis I ;   Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency ;   Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency ;   Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease ;   Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease ;   PDH Deficiency ;   PDHAD ;   PDHC Deficiency ;   PDHC Deficiency Disease ;   Pyruvate Dehydrogenase Complex Deficiency ;   Pyruvate Dehydrogenase Complex Deficiency Disease ;   Pyruvate Dehydrogenase Deficiency ;   deficiency of pyruvic dehydrogenase ;   intermittent ataxia with abnormal pyruvate metabolism ;   type I ataxia with lactic acidosis
Narrow Synonyms: LACTIC ACIDEMIA, THIAMINE-RESPONSIVE
Primary IDs: MESH:D015325
Alternate IDs: OMIA:001406 ;   OMIM:312170 ;   RDO:0001762
Xrefs: GARD:4620 ;   GARD:7513 ;   ICD10CM:E74.4 ;   NCI:C103968 ;   OMIM:PS312170 ;   ORDO:79243
Definition Sources: MESH:D015325, http://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency, http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.