Inborn errors of metabolism: part 1: overview.
نویسنده
چکیده
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 scope of newborn screening programs. 5. Be aware of treatment modalities for inborn errors of metabolism.
منابع مشابه
Selective Screening of Phenylketonuria, Tyrosinemia and Maple Syrup Urine Disease in Southern Iran
Inborn errors of amino-acids metabolism and other inherited Mendeliandisorders are common in the MiddleEast.The number of diagnosed inborn errors of amino acid metabolism is growing constantly on account of and availability and improved of analytical techniques. The aim of this work was to determine a rough estimate of the incidence rates of phenylketonuria (PKU), tyrosinemia, and maple syrup ...
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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...
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Expanded newborn screening (NBS) is aimed for early detection and intervention of treatable inborn errors of metabolism and also to establish incidence of these disorders in this part of the globe. The first expanded NBS programme initiated in the capital city of Andhra Pradesh to screen all the newborns born in four major Government Maternity Hospitals in Hyderabad by heel prick capillary bloo...
متن کاملDiagnosing Inborn Errors of Metabolism in the Newborn: Clinical Features
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...
متن کاملInborn errors of metabolism: a clinical overview.
CONTEXT Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins. OBJECTIVES A clinical review of inborn errors of metabolism (IEM) to give a practical approach to the physician with figures and tables to help in understanding the more common groups o...
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عنوان ژورنال:
- Pediatrics in review
دوره 30 4 شماره
صفحات -
تاریخ انتشار 2009