Inborn errors

Inborn errors of metabolism
Definition:
Inborn errors of metabolism are rare genetic disorders in which the body cannot turn food into energy (metabolize food) normally.
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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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Inborn Errors of Metabolism
Incompetent Cervix
Incomplete Abortion (Incomplete Miscarriage)
Incomplete Miscarriage
Increased Intracranial Pressure
Induced Sensitivity Reaction (Allergic Reactions)
Infant Apnea (Apparent Life-Threatening Event) ...
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Amino acid disorder screening is done in newborns, and sometimes children and adults, to detect inborn errors in metabolism of amino acids. Twenty of the 100 known amino acids are the main building blocks for human proteins.
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In a series of brilliant lectures in 1908 Garrod set forth the charter group of what he called "inborn errors of metabolism." The 4 conditions he labeled as inborn errors were albinism, cystinuria, pentosuria and, of course, alkaptonuria.
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Galactosemia
Galactosemia - Nutritional Considerations (Inborn Errors of Metabolism)
Galactosemia Screen (Galactose-1-Phosphate Uridyltransferase)
Galactosylcereamidase Deficiency (Krabbe Disease)
Galactosylcerebrosidase Deficiency (Krabbe Disease) ...
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It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts.
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Some of these are designed to treat specific inborn errors of metabolism, in which your baby is unable to utilize certain amino acids. Conditions requiring these formulas are usually diagnosed shortly after birth.
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National Research Council Committee for the Study of Inborn Errors of Metabolism.: Genetic Screening Programs, Principles, and Research. Washington, D.C.: National Academy of Sciences, 1975.
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These types of disorders are usually called "inborn errors of metabolism" since they are present a birth and affect how the body's metabolism works.
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Cystadane (betaine anhydrous) oral solution Indicated for the treatment of patients with homocystinuria, a rare, genetic disorder caused by various inborn errors of metabolism. Mfg: Orphan Medical. Source: PR Newswire - 12/09/96.
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Their ability to function depends on their structure, and their structure is determined by the deoxyribonucleic acid (DNA) sequence of the genes that encode them. Inborn errors of metabolism are caused by mutations in these genes which do not allow ...
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