<prompt> Increased ammonia level, normal pH, acidosis High anion gap is seen inUrea cycleGalectosemiaOrganic - acidemiaAlkaptonuria  <response>: C. i.e. Organic acidemia 610 - 13 - Ghai 6th 632 - 33 - Ghai 7th Sodium benzoate usedfor hyperammonemic states in organic aciduriasAlkaptonuria Homogentisic acid oxidase deficiency Unne becomes dark on standing Ochronosis - Pigment deposition in the sclera, ear, nose Renal stones and nephrosisTreatment - Ascorbic acid, NitisironeGalactosemiaDeficiency of Galactose 1. phosphate uridyl transferase deficiency or Galactokinase deficiency Autosomal recessive, Physiolgical jaundice persisit longer, Hepatomegaly cataract , mental retardation Vomiting, diarrhea and failure to thrive are early and common manifestationsTreatment - Galactose free diet Urea cycle disordersDue to accumulation of ammonia, citrulline, arginosuccinic acid or arginine Recurrent vomiting and irritability are observed early in life C.P - lethargy, coma, ataxia, and convulsion, mental retardation, muscle rigidity, opisthotonus and delayed development Blood urea levels are nearly normal Organic Acidurias - develops a life threatening episodes of metabolic acidosis characterized by an increased anion gapCLINICAL APPROACH TO INFANTS WITH ORGANIC ACIDEMIA Hyperammonia may suggest the presence of genetic defects in the urea cycle enzymes. Patients with defects in urea cycle enzymes are not acidotic 548 - Nelson 18th Calcification of intervertebral disc occurs in Alkaptonuria Positive urinary anion gap is seen in Renal tubular acidosis and Negative UAG seen in Diarrhea 