Disease Information for Propionicacidemia/ketotic glycinemia: Definition

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  • deficiency of propionyl coenzyme A (CoA) carboxylase. These authors noted a series of severe ketoacidotic episodes in the child that were precipitated by protein ingestion and specifically methionine and threonine administration but manifested by marked elevations in plasma and urinary glycine.; AKA ketotic hyperglycinemia,; The clinical hallmark of the disease is severe ketoacidosis of an episodic nature; propionic acidemia manifests itself through the clinical signs and symptoms of acidosis and hyperammonemia, including tachypnea, vomiting, lethargy, irritability, shock, coma, and death;Carnitine deficiency can precipitate a clinical episode by disruption of the balance; Obviously, enhanced dietary protein intake has the same net effect by flooding the mitochondrion with propionyl CoA; A common clinical finding is mild-to-moderate blood ammonia elevation, which may contribute by direct neurotoxicity to changes in a patient"s mentation; this inhibit bone marrow production of leukocytes, red cells, and platelets, so that a pancytopenia commonly is seen, usually 2-3 days after the acute presentation; The reason for elevation of serum glycine is unclear; In the US: Incidence is estimated at approximately 1:100,000 live births;quite rare, in areas of the world with restricted gene pools, such as Saudi Arabia, the incidence has been reported as high as 1:2000-1:5000 births; an autosomal recessive trait; homozygous states occur; In most cases in which presentation occurs in infancy with full-blown symptoms, the morbidity is very high; Severe ketoacidosis with pH values as low as 6-80 may cause circulatory shock, hypoxia, and irreparable brain damage;Repetitive hyperammonemia causes neurotoxicity with neuronal cell death leading to mental retardation.

    The pancytopenia commonly seen after a clinical presentation renders the patient vulnerable to infection, which may become overwhelming and result in death;

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