CLASSICAL HOMOCYSTINURIA key points of classical homocystinuria H- High dose of Vitamin B6 is required for treatment+ folic acid sometimes O – Ocular (ectopia lentis) M- Marfan like features ( Arachnodactyly, scoliosis, high arched palate, crowding of teeth , pes cavus ,genu valgum O – Osteoporosis of spine is common Cy- Cysthionine $ synthase (CBS) […]
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HARTNUP DISEASE OVERVIEW HARTNUP disease, a rare genetic disorder, has long puzzled medical experts with its complex array of symptoms and challenges in diagnosis. However, recent advancements in understanding this condition have shed light on its underlying mechanisms, offering hope for effective treatment strategies. In this article, we will delve into the enigmatic world of
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WHEN DO YOU SUSPECT AN INBORN ERROR OF METABOLISM(IEM)? If a patient presents with unexplained acute deterioration of their sensorium and clinical status, it is important to suspect an inborn error of metabolism, particularly a small molecule disorder. Small molecule disorders can occur early in life and can present with symptoms such as poor feeding,
Approach to a Child with an IEM -Quick review 2023 Read More »
