Intractable seizure in a 7-day-old child with skin rash, Increased ammonia and lactate can be diagnosed as
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
Organic acidemia
Phenylketonuria
Urea cycle anomaly
ME LAS with lactic acidosis