Inborn errors of immunity (IEI) are caused by germline genetic variants in an ever expanding number genes. Similarly, increasing acquired associated with conditions characterised immune dysregulation. Many these classified within the IEI classification system as ‘phenocopies inborn immunity’, although neither inborn, nor do they always phenocopy a counterpart. This presentation will explore con...

1. Delineate features of a medical history that should raise suspicion for an inborn error of metabolism. 2. Describe common ocular findings associated with inborn errors of metabolism. 3. List the primary clinical findings of inborn errors of metabolism associated with encephalopathy without metabolic acidosis. 4. Delineate the categories of inborn errors of metabolism associated with encephal...

how to cite this article: ahmadabadi f. neurometabolic registry site in iran. iran j child neurol autumn 2012; 6:4 (suppl. 1): 21. pls see pdf.

Neonatal seizures are common, and often comprise the first clinical indicator of central nervous system dysfunction. Although most neonatal seizures are secondary to processes such as hypoxic-ischemic injury, infection, or cortical malformations (which are readily identifiable through routine testing and imaging), seizures secondary to inborn errors of metabolism can be much more difficult to d...

introduction citrullinemia is a defect in the urea cycle that causes ammonia to accumulate in the blood. we describe the anesthetic management of a patient with citrullinemia, who experienced an unexpected 10 day hospital admission. case presentation we anesthetized a 3.5 year-old boy with citrullinemia who was scheduled for a dentistry procedure. perioperative precautions included minimizing f...

how to cite this article: najafi r, hashemipour m, mostofizadeh n, ghazavi mr, nasiri j, shahsanai a, famori f, najafi f, moafi m. demographic and clinical findings in pediatric patients affected by organic acidemia. iran j child neurol. spring 2016; 10(2): 74-81. abstract objective metabolic disorders, which involve many different organs, can be ascribed to enzyme deficiency or dysfunction and...

After completing this article, readers should be able to: 1. Recognize the signs and symptoms that are suggestive of an inborn error of metabolism. 2. Describe the characteristics of different classes of metabolic syndromes. 3. Formulate a logical diagnostic approach to determining which specific condition is present when an inborn error of metabolism is suspected. 4. Delineate the value and sc...

Close to 500 biochemically diverse genetic metabolic disorders have been identified. Despite their diversity, these diseases share a number of features. First, the majority of patients with an inborn error present clinically with one of five general phenotypes; acute encephalopathy, progressive encephalopathy, primary muscle disease, primary liver disease or primary renal disease. Encephalopath...