Case report of a child with Homocystinuria-An Inborn Error of Metabolism Mrs. Thomas Anna Hima* Tutor, MGM New Bombay College of Nursing, 5th Floor, MGM Educational Campus, Plot No: 1 and 2, Sector 1, Kamothe, Navi Mumbai-410209, Maharashtra, India *Corresponding Author E-mail: annahimathomas@gmail.com
Online published on 3 June, 2020. Abstract A 14 year old male child got admitted in the pediatric ward with the complaints of Convulsion since 5 years and inability to use left hand since 10 years. He was referred from a local hospital for the further investigations and management. Since birth, the child had a progressive developmental delay as reported by father. Later the child got diagnosed with Homocystinuria. Homocystinuria is a disorder of methionine metabolism leading to abnormal accumulation of homocysteine and its metabolites in the urine. It is an autosomal recessive inherited defect in the methylation pathway. This defect leads to a multi-systemic disorder of the connective tissue, muscles, central nervous system (CNS), and cardiovascular system. The signs and symptoms of homocystinuria typically develop within the first year of life, although some mildly affected people may not develop features until later in childhood or adulthood. Early diagnosis and intervention can help in preventing the complications include ectopia lentis, Mental retardation and thromboembolic events. Top Keywords Homocysteinuria, Inborn errors of metabolism, methionine metabolism, autosomal recessive inheritance, cystathionine synthase deficiency. Top |