This is a real-world medical entrance exam question, please give the true answer based on the question and selection. Topic name: None, Subject name: Pediatrics
[{'content': 'A 5-day-old child presents with intractable seizures. He had rashes all over the body. Blood examination showed hyperammonemia and lactic acidosis. The probable diagnosis is – \nSelect and explain. \nA. Organic aciduria, B. Mitochondrial encephalopathy with lactic aciduria, C. Phenylketonuria, D. Urea cycle enzyme deficiency', 'role': 'user'}, {'content': 'Answer: A \nExplanation: Organic aciduria (organic acidemia)\n\nOrganic aciduria is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino acids (isoleucine, leucine, valise) causing a build of acids which are usually not present.\nThe main types of organic acidemia are : -\n\ni) Methylnzalonic acidemia\xa0\xa0\xa0\xa0\nii) Propionic acidenzia\xa0\xa0\xa0\xa0\xa0\xa0\xa0\niii) Isoavleric acidemia\niv) Maple syrup urine disease\nvi) Giutaric acidemia\xa0\xa0\xa0\xa0\xa0\xa0\xa0\xa0\xa0\xa0\xa0\nv) Combined (multiple) carboxylase deficiency\nClinical manifestations\n\nNeurological damage → Mental retardation, Seizures, Lethargy, Vomiting.\nDevelopmental delay \xa0 \xa0 \xa0 \xa0 \xa0 \xa0 \xa0\xa0\nHypoglycemia \xa0 \xa0 \xa0 \xa0 \xa0 \xa0 \xa0 \xa0 \xa0 \xa0 \xa0 \xa0 \xa0\xa0\nKetoacidosis\xa0\xa0\xa0\xa0\xa0\xa0\xa0\xa0\nMalnutrition \xa0 \xa0\xa0\nHypotonia \xa0\xa0\xa0\xa0\nHyperammonemia\xa0\xa0\xa0\xa0\xa0\nPoor feeding and slow growth\xa0\xa0\nMetabolic acidosis (Lactic acidosis)\xa0\xa0\nRash, alopecia and ataxia in some organic aciduria.\xa0 \xa0 \xa0 \xa0 \xa0 \xa0\xa0\n\nMitochondrial encephalopathy (MELAS)\n\nEncephalopathy\nLactic acidosis\nStroke-like episodes → Blindness, paralysis, vomiting.\n\nDisorders of the urea cycle\n\nAmmonia is mostly derived from the catabolism of amino acid and is converted to an amino group in urea by enzymes of the urea cycle.\nSo, defects in enzymes of urea cycle cause →\n\ni) Hyperammonemia\xa0\xa0\xa0\xa0\xa0\xa0\xa0\xa0\xa0\xa0\xa0\nii) Encephalopathy\xa0\xa0\xa0\xa0\xa0\niii) Vomiting', 'role': 'assistant'}]