University Journal of Pre and Paraclinical Sciences
METABOLIC SCREENING IN GLUTARIC ACIDEMIA (TYPE 2)- A CASE STUDY
Abstract
A 4 years old male child has been brought to the hospital with delayed milestones, seizures and hypotonia. A provisional diagnosis of 'hyperglycinemia' was made and his body fluids were screened for the presence of glycine. The metabolic screening procedures like the 'Ninhydrin' test showed positive for the presence of amino acids in urine sample but the 'Paper chromatography' with urine, serum and cerebrospinal fluid samples showed that the amino acid was not glycine which
eliminated the provisional diagnosis of hyperglycinemia. Since the relative front (Rf) of the amino compound was close to glycine, Urine gas chromatography-mass spectrometry (GC-MS) for organic acids was performed in which the elevated levels of organic acids and their conjugates of glycine were detected. These biochemical features were found to be characteristic of Glutaric acidemia (type 2), an autosomal recessive inherited metabolic disease due to deficiency of Electron Transferring Flavoprotein (ETF) or ETF-Quinolone oxidase. This biochemical diagnosis was being helpful for the initiation of proper treatment necessary for the child. The patient has been advised to follow a low fat and low protein diet with riboflavin and Carnitine supplementation with regular follow up. This case study emphasizes the importance of complete metabolic screening in the diagnosis and treatment of clinically suspected cases of 'Inherited metabolic diseases'.
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