Authors : C R Subhasree, C R Subhasree, S Subramaniam, S Subramaniam, S Shyama, S Shyama, A T Arasar Seeralar, A T Arasar Seeralar
DOI : 10.18231/j.ijogr.2020.123
Volume : 7
Issue : 4
Year : 2020
Page No : 579-583
Hyperammonaemia is a metabolic disease that can be known as ammonia levels in the bloodstream which can result in brain damage only if treated properly early at birth. Human disorders implicated in the nervous system’s inborn metabolism defects are organic aciduria with secondary hyperammonaemia. Most organic aciduria during neonatal period or early infancy become clinically apparent. The metabolic disorders involved are metabolic stress state with extreme levels of hyperammonaemia above 1000 mmol / L which is the discriminative feature for metabolic disorders diagnosis. We presented this case which has been
identified by unique test as propionic acidemia to demonstrate that severe high levels of ammonia can be seen in organic acidemias. A propionic acidemia is caused by a carboxylase deficiency of propionyl-CoA that accumulates toxic compounds that affect brain metabolism. This is classified as a haematological disorder under the hereditary metabolic disease. Propionic acidemia is an inherited metabolic condition in which the body was incapable of adequately processing such protein catabolism and oxidation defects. In most cases, within a few days after birth, the characteristics of this condition become obvious. The primary signs include poor eating, diarrhea, appetite loss, hypotonia, and lethargy. Mutations in the PCCA (alpha unit) and PCCB (beta unit)genes cause propionic acidemia; it has an autosomal recessive pattern of inheritance.
Keywords: Hyperammonaemia, Propionic Acidemia, Metabolic disorders, Lethargy, Inborn errors of metabolism, Neonatal period, Autosomal recessive.