Methylmalonicaciduria with homocystinuria- cbl F
Overview
Methylmalonicaciduria with homocystinuria, cobalamin F: An inherited organic acid disorder where an enzyme deficiency (cbl F) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects.
Symptoms
The list of signs and symptoms mentioned in various sources for Methylmalonicaciduria with homocystinuria, cobalamin F includes the 23 symptoms listed below: Poor appetite Failure to thrive Brain abnormalities Poor muscle tone Seizures Small head Learning delay Mental retardation Vision problems Retarded growth Heart problems Skin rash High urine level of methylmalonic acid High blood level of methylmalonic acid High urine level of homocysteine High blood level of homocysteine Lack of energy Protein in the urine Low level of blood platelets Increased blood clotting Kidney problems Reduced white blood cell count Metabolic acidosis Note that Methylmalonicaciduria with homocystinuria, cobalamin F symptoms usually refers to various symptoms known to a patient, but the phrase Methylmalonicaciduria with homocystinuria, cobalamin F signs may refer to those signs only noticable by a doctor.