Increased ammonia level, normal pH, acidosis (High anion gap) is seen in
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, Nitisirone**GalactosemiaDeficiency 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)
Urea cycle
Galectosemia
Organic - acidemia
Alkaptonuria
Metabolic Disorders