Biomaterial Database

Thiamine responsive pyruvate dehydrogenase deficiency. 1992

K Narisawa, and H Endo, and S Miyabayashi, and K Tada

Department of Biochemical Genetics, University School of Medicine, Sendai, Japan.

We studied a PDH deficient patient who is clinically responsive to thiamine. High Km and low Vmax values for the TPP were identified in the patient's cultured cells. Immunoblot analysis detected trace amount of mutant E1 alpha polypeptide which was 3.5 KD larger than normal in size. Four-nucleotide deletion in the E1 alpha gene causes a reading frame shift, producing an abnormal polypeptide with additional 31 amino acids at C-terminus of the E1 alpha subunit. The tryptophan (codon 383) and lysine (385) residues near the C-terminus might play a crucial role in the binding of TPP to the E1.

UI	MeSH Term	Description	Entries
D007700	Kinetics	The rate dynamics in chemical or physical systems.
D008297	Male		Males
D008969	Molecular Sequence Data	Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.	Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005080	Exercise Test	Controlled physical activity which is performed in order to allow assessment of physiological functions, particularly cardiovascular and pulmonary, but also aerobic capacity. Maximal (most intense) exercise is usually required but submaximal exercise is also used.	Arm Ergometry Test,Bicycle Ergometry Test,Cardiopulmonary Exercise Testing,Exercise Testing,Step Test,Stress Test,Treadmill Test,Cardiopulmonary Exercise Test,EuroFit Tests,Eurofit Test Battery,European Fitness Testing Battery,Fitness Testing,Physical Fitness Testing,Arm Ergometry Tests,Bicycle Ergometry Tests,Cardiopulmonary Exercise Tests,Ergometry Test, Arm,Ergometry Test, Bicycle,Ergometry Tests, Arm,Ergometry Tests, Bicycle,EuroFit Test,Eurofit Test Batteries,Exercise Test, Cardiopulmonary,Exercise Testing, Cardiopulmonary,Exercise Tests,Exercise Tests, Cardiopulmonary,Fitness Testing, Physical,Fitness Testings,Step Tests,Stress Tests,Test Battery, Eurofit,Test, Arm Ergometry,Test, Bicycle Ergometry,Test, Cardiopulmonary Exercise,Test, EuroFit,Test, Exercise,Test, Step,Test, Stress,Test, Treadmill,Testing, Cardiopulmonary Exercise,Testing, Exercise,Testing, Fitness,Testing, Physical Fitness,Tests, Arm Ergometry,Tests, Bicycle Ergometry,Tests, Cardiopulmonary Exercise,Tests, EuroFit,Tests, Exercise,Tests, Step,Tests, Stress,Tests, Treadmill,Treadmill Tests
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000595	Amino Acid Sequence	The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.	Protein Structure, Primary,Amino Acid Sequences,Sequence, Amino Acid,Sequences, Amino Acid,Primary Protein Structure,Primary Protein Structures,Protein Structures, Primary,Structure, Primary Protein,Structures, Primary Protein
D001483	Base Sequence	The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.	DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA
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
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