Biomaterial Database

Deficiencies within the pyruvate dehydrogenase complex: clinical and pathological correlates. 1985

S J Wallace

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007888	Leigh Disease	A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).	Encephalomyelitis, Subacute Necrotizing,Encephalopathy, Subacute Necrotizing,Encephalomyelopathy, Subacute Necrotizing,Encephalopathy, Subacute Necrotizing, Infantile,Encephalopathy, Subacute Necrotizing, Juvenile,Infantile Leigh Disease,Infantile Subacute Necrotizing Encephalopathy,Juvenile Leigh Disease,Juvenile Subacute Necrotizing Encephalopathy,Leigh Disease, Infantile,Leigh Disease, Juvenile,Leigh Syndrome,Leigh's Disease,Subacute Necrotizing Encephalomyelitis, Infantile,Subacute Necrotizing Encephalomyelopathy,Subacute Necrotizing Encephalopathy,Subacute Necrotizing Encephalopathy, Infantile,Subacute Necrotizing Encephalopathy, Juvenile,Disease, Leigh's,Encephalomyelitides, Subacute Necrotizing,Encephalomyelopathies, Subacute Necrotizing,Encephalopathies, Subacute Necrotizing,Leighs Disease,Necrotizing Encephalomyelitides, Subacute,Necrotizing Encephalomyelitis, Subacute,Necrotizing Encephalomyelopathies, Subacute,Necrotizing Encephalomyelopathy, Subacute,Necrotizing Encephalopathies, Subacute,Necrotizing Encephalopathy, Subacute,Subacute Necrotizing Encephalomyelitides,Subacute Necrotizing Encephalomyelitis,Subacute Necrotizing Encephalomyelopathies,Subacute Necrotizing Encephalopathies
D008058	Dihydrolipoamide Dehydrogenase	A flavoprotein containing oxidoreductase that catalyzes the reduction of lipoamide by NADH to yield dihydrolipoamide and NAD+. The enzyme is a component of several MULTIENZYME COMPLEXES.	Lipoamide Dehydrogenase,NAD Diaphorase,NADH Diaphorase,Diaphorase (Lipoamide Dehydrogenase),Dihydrolipoyl Dehydrogenase,Glycine Decarboxylase Complex L-Protein,L-Protein, Glycine Decarboxylase Complex,Lipoamide Dehydrogenase, Valine,Lipoic Acid Dehydrogenase,Lipoyl Dehydrogenase,Valine Lipoamide Dehydrogenase,Dehydrogenase, Dihydrolipoamide,Dehydrogenase, Dihydrolipoyl,Dehydrogenase, Lipoamide,Dehydrogenase, Lipoic Acid,Dehydrogenase, Lipoyl,Dehydrogenase, Valine Lipoamide,Diaphorase, NAD,Diaphorase, NADH,Glycine Decarboxylase Complex L Protein
D008297	Male		Males
D001921	Brain	The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.	Encephalon
D002524	Cerebellar Ataxia	Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)	Adiadochokinesis,Ataxia, Cerebellar,Cerebellar Dysmetria,Dysmetria,Cerebellar Hemiataxia,Cerebellar Incoordination,Hypermetria,Adiadochokineses,Ataxias, Cerebellar,Cerebellar Ataxias,Cerebellar Dysmetrias,Cerebellar Hemiataxias,Cerebellar Incoordinations,Dysmetria, Cerebellar,Dysmetrias,Dysmetrias, Cerebellar,Hemiataxia, Cerebellar,Hemiataxias, Cerebellar,Hypermetrias,Incoordination, Cerebellar,Incoordinations, Cerebellar
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
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man