Biomaterial Database

[Pyruvate dehydrogenase complex deficiency]. 2001

M Ito, and Y Kuroda

Department of Pediatrics, School of Medicine, University of Tokushima.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D011379	Prognosis	A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.	Prognostic Factor,Prognostic Factors,Factor, Prognostic,Factors, Prognostic,Prognoses
D011768	Pyruvate Dehydrogenase Complex	A multienzyme complex responsible for the formation of ACETYL COENZYME A from pyruvate. The enzyme components are PYRUVATE DEHYDROGENASE (LIPOAMIDE); dihydrolipoamide acetyltransferase; and LIPOAMIDE DEHYDROGENASE. Pyruvate dehydrogenase complex is subject to three types of control: inhibited by acetyl-CoA and NADH; influenced by the energy state of the cell; and inhibited when a specific serine residue in the pyruvate decarboxylase is phosphorylated by ATP. PYRUVATE DEHYDROGENASE (LIPOAMIDE)-PHOSPHATASE catalyzes reactivation of the complex. (From Concise Encyclopedia Biochemistry and Molecular Biology, 3rd ed)	Complex, Pyruvate Dehydrogenase,Dehydrogenase Complex, Pyruvate
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015325	Pyruvate Dehydrogenase Complex Deficiency Disease	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.	Ataxia with Lactic Acidosis, Type I,Lactic Acidosis with Ataxia, Type I,Ataxia with Lactic Acidosis,Ataxia with Lactic Acidosis I,Ataxia, Intermittent, with Abnormal Pyruvate Metabolism,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,PDHC Deficiency,PDHC Deficiency Disease,Pyruvate Decarboxylase Deficiency,Pyruvate Dehydrogenase Complex Deficiency,Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile,Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal,Pyruvate Dehydrogenase Deficiency,Type I Ataxia with Lactic Acidosis,Deficiency, PDH,Deficiency, PDHC,Deficiency, Pyruvate Decarboxylase,Deficiency, Pyruvate Dehydrogenase