Abstract
In the following case-study, Joshua is a newborn infant presented by his parents Samuel and Rachel to the pediatric outpatient unit of Robertsbridge, Sussex for screening and medical advice for sporadic vomiting at the time of breast feeding and seizure-like episodes. Samuel and Racheal also report sweet odor in the urine and loss of weight. Blood tests demonstrated increased concentrations of leucine and isoleucine. Genetic testing on the skin biopsies reveal mutation at Exon 6, c.659C>T of the of BCKDHA gene with a protein level p. A220V and Joshua exhibits about 1.5 % lesser than normal deficiency in the ...
