An infant presents with history of seizures and skin rashes. Investigations show metabolic acidosis increased blood ketone levels. This child is likely to be suffering from:
Each child with Homo Carboxylase Synthatase Deficiency (HCSD) is likely to experience slightly different effects. Many babies with this condition sta to have symptoms within hours of bih or during the first few days or weeks of life. Other babies have their first symptoms sometime in infancy, usually before two years of age. A small number of people with HCSD never show symptoms and are only found to be affected after a brother or sister is diagnosed. HCSD causes episodes of illness called metabolic crises. Some of the first symptoms of a metabolic crisis are: poor appetite vomiting extreme sleepiness or lack of energy irritability low muscle tone (floppy muscles and joints) severe peeling skin rash Common lab findings are: low blood sugar, called hypoglycemia high levels of acidic substances in the blood, called metabolic acidosis slightly high levels of ammonia in the blood low platelets ketones in the urine high levels of substances called organic acids in the urine If a metabolic crisis is not treated, a child with HCSD can develop: breathing problems seizures swelling of the brain coma, sometimes leading to death Ref: Kliegman, Behrman, Jenson, Stanton, (2007), Chapter 85, "Defects in Metabolism of Amino Acids", In the book, "Nelson's Textbook of Pediatrics", Volume 1, 18th Edition, New Delhi, Page 543
Propionic aciduraria
Urea cyclic disorder
Phenylketonuria
Multiple carboxylase deficiency