2006, Number 5
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Rev Mex Pediatr 2006; 73 (5)
Propionic acidemia. Regarding an infant patient
Aviña FJA, García SO
Language: Spanish
References: 11
Page: 230-232
PDF size: 63.17 Kb.
ABSTRACT
Propionic acidemia is an organic aciduria produced by the deficiency of propionyl CoA-carboxylase, producing a ketotic hyperglycinemia and recurrent metabolic imbalance. Although rare, it is the more common inborn error of the metabolic disorders. This is a case of late-onset progressive type of this inherited disease, with clinical evolution towards mental retardation and delayed neurological development with extrapyramidalism abnormalities. The report of the case illustrates the clinical of ketoacidosis with hyperammonemia, its final diagnosis and treatment.
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