Intractable seizure in a 7-day-old child with skin rash, Increased ammonia and lactate can be diagnosed as: (A) Organic acidemia, (B) Phenylketonuria, (C) Urea cycle anomaly, (D) ME LAS with lactic acidosis
Answer is A. Mutation in mitochondrial DNA, result in disease 1.Mitochondrial myopathies 2.MERRF syndrome - myoclonus epilepsy with ragged red fibers 3.MELA's syndrome - mitochondrial encephalomyopathy with lactate acidosis and stroke like pisodes, (Intermittent vomiting, proximal muscles weakness) 4.LHON=Leber hereditary optic neuropathy-acure or subacute loss vision in men around the age of 20 5.K. SS - Kearns - Sayre syndrome - progressiwe external ophthalmoplegia, pigmentary retinopathy and cardiac conduction defects presenting in childhood. Organic acidemias - The intermediate metabolitess are all organic acids and deficiency of any degrading enzymes except transaminases, causes acidosis, In such msvance the organic acids before the enzymatic block accumulate