Defect in synthesis of adenosylcobalamin
Overview
A rare genetic disorder characterized by the impaired ability to make a chemical called adenosylcobalamin. Adenosylcobalamin is a derivative of vitamin B12. The defect results a biochemical abnormality which affects the body's normal biochemical functioning.
Symptoms
* High methylmalalonic acid level in the urine * High methylmalalonic acid level in the blood * Retarded development * Metabolic acidosis * Intermittent hyperglycinemia * Long chain ketonuria * Lethargy * Failure to thrive * Recurring vomiting * Dehydration * Respiratory distress * Reduced muscle tone * Enlarged liver * Hyperammonemia * Pancytopenia * Poor feeding * Seizures * Fine tremors
Diagnosis
This medical information about signs and symptoms for Defect in synthesis of adenosylcobalamin has been gathered from various sources, may not be fully accurate, and may not be the full list of Defect in synthesis of adenosylcobalamin signs or Defect in synthesis of adenosylcobalamin symptoms. Furthermore, signs and symptoms of Defect in synthesis of adenosylcobalamin may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Defect in synthesis of adenosylcobalamin symptoms.
Treatment
The list of treatments mentioned in various sources for Defect in synthesis of adenosylcobalamin includes the following list. Always seek professional medical advice about any treatment or change in treatment plans. * Vitamin B12 supplementation; restricted diet
Resources
* Coma: Prolonged unconsciousness * Dehydration: Loss of fluids in the body * Delta-1-pyrroline 5-carboxylate synthetase deficiency: A rare syndrome caused by an enzyme deficiency (Delta-1-pyrroline 5-carboxylate synthetase). * Enlarged liver: Swelling of the liver.