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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 22070 pyruvate dehydrogenase, deficiency Eponyms: Inheritance: ataxia with pyruvate dehydrogenase or decarboxylase deficiency ataxia-lactic acidosis I lactic acidosis I with ataxia PDH complex E1-alphapolypeptide1 PDHA PDHA1 PDHB PDHCE1A PHE1A thiamine responsive lacticacidemia genetic heterogeneity supposed autosomal recessive X-linked recessive Semeiological Metabolic disorder, isolated defect. Growth retardation, lactic acidosis, weakness, ataxia, respiratory infections, optic atrophy, mental retardation, other neurological defects. Synthesis: Group Sub group Signs: GASTROINTESTINAL DISORDERS liver dysfunctions, liver anomalies hepatomegaly, liver enlarged JOINT DISORDERS joint, mobility reduction contractures, joint stifness, not including: arthrogriposis, camptodactyly LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome X localization chromosome Xp localization foetal-amniotic biochemical data pyruvate decarboxylase deficiency (foetal) pyruvate dehydrogenase , low activity (foetal) gene, structural-functional anomalies gene analysis-DNA analysis PDHA1 pyruvate dehydrogenase complex E1 alpha polypeptide 1, gene chr.Xp22.2-p22.1 plasma nonprotein-organic constituents, anomalies lactic acidosis, lacticacidemia uric acid, high levels, hyperuricemia plasma proteins, anomalies organic acid disorders tissue, biochemical changes lethality, in metabolic/immunological/environmental disorders metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis porphyrins, including hemoproteins pyruvate dehydrogenase, low activity MUSCULAR DISEASES systemic muscular defects hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy NEUROLOGICAL DISORDERS basal ganglia, disorders dystonia pyruvate dehydrogenase, deficiency Page 1 of 3 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database brain anomalies corpus callosum, agenesis hydranencephaly hydrocephalus not including: aquaeductal stenosis and Dandy Walker microcephaly, microcrania cerebellum, changes cerebellum amygdala, hernia mental retardation mental retardation neurological dysfunctions cerebellar ataxia, sensory ataxia choreoathetosis, coordination disorders, apraxia/dyspraxia not including: ocular demyelinating neuropathy seizures, convulsions, epilepsy spasm, spastic paralysis, spastic paraplegia OCULAR DISORDERS eye, motility defects nystagmus strabismus convergent, esotropia, misalignment of the visual axes of the eyes optical nerve defects optic atrophy OROCRANIOFACIAL ANOMALIES facies, modified appearance dysmorphic face facial dysmorphism due to cranial changes including microcephaly lips, modified appearance lips, mouth, downturned corners nose, modified appearance nose, philtrum flat, smoot, poorly developed OTHERS inheritance inheritance, genetic heterogeneity inheritance, X-linked recessive supergroups arthro-facio-skeletal disorders arthro-neuro-skeletal disorders facio-gastrointestinal-neuro-oculo-skeletal disorders gastrointestinal-oculo-skeleal disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data foetal changes, recognized by ultrasound techniques prenatal diagnosis prenatal diagnosis, echographic prenatal diagnosis, metabolic prenatal diagnosis, molecular SKELETAL DISORDERS stature, growth, modified habitus growth delayed, failure to thrive, growth retardation Super group: arthro-facio-skeletal disorders arthro-neuro-skeletal disorders ataxia-mental retardation dysmorphic face-mental retardation dysmorphic face-mental retardation: metabolic disorders facio-gastrointestinal-neuro-oculo-skeletal disorders pyruvate dehydrogenase, deficiency Page 2 of 3 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database gastrointestinal-oculo-skeletal disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: foetal changes, recognized by ultrasound techniques LETHALITY lethality, in metabolic/immunological/environmental disorders vomit, lethargy, hypotonia, other features including some metabolic defects without dysmorphism/malform METABOLIC DISORDERS metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis organic acid disorders porphyrins, including hemoproteins OTHER craniofacial dysmorphism due to cranial changes, including microcephaly demyelinating neuropathy dysmorphic face Differential diagnosis: 143 acetoacethyl-CoA thiolase cytosolic deficiency 27947 ataxia-myoclonic encephalopathy-macular degeneration 175 ATIC deficincy 4248 carbohydrate-deficient glycoprotein syndrome type I(a-d-e-g-h-k) 28657 carbohydrate-deficient glycoprotein syndrome type II 404 carbohydrate-deficient glycoprotein syndrome type Iid 28675 carbohydrate-deficient glycoprotein syndrome type III 4056 carbohydrate-deficient glycoprotein syndrome type Ij 28676 carbohydrate-deficient glycoprotein syndrome type IV 94 carbohydrate-deficient glycoprotein syndrome, type V 10150 fructose-1,6- diphosphatase deficiency 9107 GRACILE syndrome 14317 lactic acidosis, congenital infantile 8405 mitochondrial ATPase deficiency 27963 Moreadith syndrome 28656 oxoglutaricaciduria 7608 Roe disease 795 spastic paraplegia, hereditary-11 109 tricarboxylic acid cycle defect Aggregation(s) [in differential diagnosis]: - metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis Bibliography OMIM ID: 208800 OMIM ID: 312170 Annuario Orphanet-Italia delle Malattie Rare, 2005 pag. 663 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.2536,2007 pyruvate dehydrogenase, deficiency Page 3 of 3
