Biomaterial Database

Pyruvic acidemia with hyperalaninemia: vitamin B1 dependency. 1969

D Lonsdale, and W R Faulkner, and W Price, and R R Smeby

UI	MeSH Term	Description	Entries
D008297	Male		Males
D011773	Pyruvates	Derivatives of PYRUVIC ACID, including its salts and esters.
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
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000409	Alanine	A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.	Abufène,Alanine, L-Isomer,L-Alanine,Alanine, L Isomer,L Alanine,L-Isomer Alanine
D013831	Thiamine	3-((4-Amino-2-methyl-5-pyrimidinyl)methyl)-5-(2- hydroxyethyl)-4-methylthiazolium chloride.	Aneurin,Vitamin B 1,Thiamin,Thiamine Mononitrate,Vitamin B1,Mononitrate, Thiamine
D014804	Vitamin B Deficiency	A condition due to deficiency in any member of the VITAMIN B COMPLEX. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat.	Deficiency, Vitamin B,Deficiencies, Vitamin B,Vitamin B Deficiencies
D014899	Wernicke Encephalopathy	An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)	Beriberi, Cerebral,Encephalopathy, Wernicke,Encephalopathy, Gayet-Wernicke,Encephalopathy, Wernicke's,Gayet-Wernicke Encephalopathy,Wernicke Disease,Wernicke Polioencephalitis, Superior Hemorrhagic,Wernicke Superior Hemorrhagic Polioencephalitis,Wernicke Syndrome,Wernicke's Disease,Wernicke's Encephalopathy,Wernicke's Polioencephalitis, Superior Hemorrhagic,Wernicke's Superior Hemorrhagic Polioencephalitis,Wernicke's Syndrome,Cerebral Beriberi,Encephalopathies, Wernicke,Encephalopathy, Gayet Wernicke,Encephalopathy, Wernickes,Gayet Wernicke Encephalopathy,Wernicke Encephalopathies