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Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis. 2017

Pragya Mangla, and Poonam Singh Gambhir, and Siddhnath Sudhanshu, and Priyanka Srivastava, and Archana Rai, and Vijayalakshmi Bhatia, and Shubha R Phadke
Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D011766 Pyruvate Carboxylase A biotin-dependent enzyme belonging to the ligase family that catalyzes the addition of CARBON DIOXIDE to pyruvate. It is occurs in both plants and animals. Deficiency of this enzyme causes severe psychomotor retardation and ACIDOSIS, LACTIC in infants. EC 6.4.1.1. Carboxylase, Pyruvate
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
D015324 Pyruvate Carboxylase Deficiency Disease An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9) Ataxia with Lactic Acidosis, Type II,Lactic Acidosis with Ataxia, Type II,Ataxia with Lactic Acidosis 2,Ataxia with Lactic Acidosis II,Deficiency Disease, Pyruvate Carboxylase,Pyruvate Carboxylase Deficiency,Type II Ataxia with Lactic Acidosis,Deficiency, Pyruvate Carboxylase
D016883 Diabetic Ketoacidosis A life-threatening complication of diabetes mellitus, primarily of TYPE 1 DIABETES MELLITUS with severe INSULIN deficiency and extreme HYPERGLYCEMIA. It is characterized by KETOSIS; DEHYDRATION; and depressed consciousness leading to COMA. Acidosis, Diabetic,DKA Diabetic Ketoacidosis,Diabetic Acidosis,Diabetic Ketosis,Ketoacidosis, Diabetic,Ketosis, Diabetic,Acidoses, Diabetic,DKA Diabetic Ketoacidoses,Diabetic Acidoses,Diabetic Ketoacidoses,Diabetic Ketoacidosis, DKA,Diabetic Ketoses,Ketoacidoses, Diabetic,Ketoacidosis, DKA Diabetic,Ketoses, Diabetic
D020125 Mutation, Missense A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) Missense Mutation,Missense Mutations,Mutations, Missense

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