scientific term of inherited metabolic disorder
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NEWSLETTER
Medical Definition of Inherited metabolic diseases
Inherited metabolic diseases: Also called inborn errors of metabolism, these are heritable (genetic) disorders of biochemistry. Examples include albinism, cystinuria (a cause of kidney stones), phenylketonuria (PKU), and some forms of gout, sun sensitivity, and thyroid disease. These are only a very few of the hundreds of known inborn errors of metabolism.
Advances in the diagnosis and treatment of inborn errors of metabolism have improved the outlook for many of these conditions so that early diagnosis, if possible in infancy, can be helpful.
Many of the inborn errors of metabolism in young infants cause symptoms such as sluggishness (lethargy), poor feeding, apnea (stopping breathing) or tachypnea (fast breathing), and recurrent vomiting.
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Inherited metabolic diseases: Also called inborn errors of metabolism, these are heritable (genetic) disorders of biochemistry. Examples include albinism, cystinuria (a cause of kidney stones), phenylketonuria (PKU), and some forms of gout, sun sensitivity, and thyroid disease. These are only a very few of the hundreds of known inborn errors of metabolism.
Advances in the diagnosis and treatment of inborn errors of metabolism have improved the outlook for many of these conditions so that early diagnosis, if possible in infancy, can be helpful.
Many of the inborn errors of metabolism in young infants cause symptoms such as sluggishness (lethargy), poor feeding, apnea (stopping breathing) or tachypnea (fast breathing), and recurrent vomiting.
Any infants, particularly full-term infants, with these findings should be seen and checked immediately by a doctor.
Laboratory testing for metabolic disorders is done in children who are possible candidates for inborn errors of metabolism. This testing might, for example, include:
Blood sugar: Hypoglycemia (low blood sugar) is the predominant finding in a number of inborn errors of metabolism.Blood tests for jaundice (yellowing) or other evidence of liver disease: This is a sign of another important group of inborn errors of metabolism.
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inherited metabolic disorders is something to understand in parts.
inherited mean something which is imparted to you through the genes which run in the family.
metabolic here means the process which helps you get rid of waste in your body
and the disorder here can be any disease related to metabolism imparted into your genes by your family. Say you grandfather might have some metabolic disorder and his gene which are imparted in your DNA might be the cause of you going thru the same thing as he was.(or is).
inherited mean something which is imparted to you through the genes which run in the family.
metabolic here means the process which helps you get rid of waste in your body
and the disorder here can be any disease related to metabolism imparted into your genes by your family. Say you grandfather might have some metabolic disorder and his gene which are imparted in your DNA might be the cause of you going thru the same thing as he was.(or is).
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