Biomaterial Database

Megaloblastic anemia--a rare cause. 2011

Sanjib Kr Debnath, and Anju Aggarwal, and Hema Mittal

Department of Pediatrics, University College of Medical Sciences and Guru Tegh Bahadur Hospital, New Delhi, India.

A 2- year- old boy presented with non responsive megaloblastic anemia, growth failure and developmental delay. Blood levels of B(12), folic acid and iron were normal. Tandem mass spectroscopy for common inborn errors of metabolism did not reveal any abnormality. There was an increased excretion of orotic acid in urine. The authors report this as a rare cause of megaloblastic anemia.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009962	Orotate Phosphoribosyltransferase	The enzyme catalyzing the formation of orotidine-5'-phosphoric acid (orotidylic acid) from orotic acid and 5-phosphoribosyl-1-pyrophosphate in the course of pyrimidine nucleotide biosynthesis. EC 2.4.2.10.	Orotidine-5'-Phosphate Pyrophosphorylase,Orotidylic Acid Phosphorylase,OMPase,Orotidine-5'-Monophosphate Phosphohydrolase,Orotidine 5' Monophosphate Phosphohydrolase,Orotidine 5' Phosphate Pyrophosphorylase,Phosphohydrolase, Orotidine-5'-Monophosphate,Phosphoribosyltransferase, Orotate,Phosphorylase, Orotidylic Acid,Pyrophosphorylase, Orotidine-5'-Phosphate
D009964	Orotidine-5'-Phosphate Decarboxylase	Orotidine-5'-phosphate carboxy-lyase. Catalyzes the decarboxylation of orotidylic acid to yield uridylic acid in the final step of the pyrimidine nucleotide biosynthesis pathway. EC 4.1.1.23.	Orotidine Phosphate Carboxy-Lyase,Orotidylate Decarboxylase,OMP Decarboxylase,Orotidine 5 Phosphate Decarboxylase,Orotidine 5' Phosphate Decarboxylase,Orotidine-5-Phosphate Decarboxylase,Carboxy-Lyase, Orotidine Phosphate,Decarboxylase, OMP,Decarboxylase, Orotidine-5'-Phosphate,Decarboxylase, Orotidine-5-Phosphate,Decarboxylase, Orotidylate,Orotidine Phosphate Carboxy Lyase,Phosphate Carboxy-Lyase, Orotidine
D011686	Purine-Pyrimidine Metabolism, Inborn Errors	Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.	Purine Pyrimidine Metabolism, Inborn Errors
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000749	Anemia, Megaloblastic	A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS.	Anemias, Megaloblastic,Megaloblastic Anemia,Megaloblastic Anemias