inborn errors of metabolism


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in·born er·rors of me·tab·o·lism

(īn'bōrn er'ŏrz mĕ-tab'ŏ-lizm)
A group of disorders, each of which involves a disorder of a single unique enzyme, genetic in origin and operating from birth; effects are ascribable to accumulation of the substrate on which the enzyme normally acts (e.g., phenylketonuria), to deficiency of the product of the enzyme (e.g., albinism), or to forced metabolism through an auxiliary pathway (e.g., oxaluria).

inborn errors of metabolism

Genetic defects that interfere with the normal biochemical processes of the body. The term was coined in 1908 Sir Archibald Garrod (1857–1936) to describe the inherited diseases ALKAPTONURIA, ALBINISM, CYSTINURIA, and PENTOSURIA. Many other such conditions are now known and their genetic mechanism understood. All metabolic processes are mediated by enzymes and these are coded for by genes. When a gene mutation results in the absence or defect of one or more of these enzymes, inborn errors of metabolism result.
References in periodicals archive ?
Inborn errors of metabolism: Challenges and management.
Asburce Olgac MD, Gazi University Faculty of Medicine, Department of Pediatrics, Division of Inborn Errors of Metabolism, Ankara, Turkey Phone: +90 505 731 80 99 E-mail: mabolgac@yahoo.com ORCID ID: orcid.org/0000-0002-4989-221X
For the reason of the diagnosis of inborn errors of metabolism, the abnormal levels of amino acids should be significantly apparent.
Nevertheless, we do hope that, by learning from this case, caregivers will become more aware of these complications and may lead to better care for patients with inborn errors of metabolism, especially regarding earlier initiation of parenteral nutrition.
In: Vademecum Metabolicum: Diagnosis and Treatment of Inborn Errors of Metabolism. 3 [sup]rd ed.
The best approach to counter Inborn Errors of Metabolism is by modifying the diet intake, replacement or enrichment of missing enzymes, and removal of toxic build up.
The idea of "inborn errors of metabolism" is used as an example of chemical differences, although it is not clear how this term is truly defined in the book, as inborn errors of metabolism are typically associated with specific enzyme deficiencies (such as tyrosinemia or galactosemia) that often can be improved by dietary elimination, medications, or removal of the organ with the missing enzyme component (as in liver transplantation).
Determination of etiology is critical, both for treatment and disease prognosis.5 Birth asphyxia is the commonest cause of neonatal seizures.3 Other causes include septicemia with or without CNS infection, transient metabolic disorder (hypoglycemia, hypocalcaemia, hypomagnesemia and hypernatremia.6 Hypocalcaemia is the commonest metabolic disorder followed by hypoglycemia), intracranial bleed, brain malformation, inborn errors of metabolism (urea cycles defects, mitochondrial abnormalities), tetanus, kernicterus and pyridoxine dependency.6,7 Other causes include polycythemia, maternal narcotic withdrawal, drug toxicity (e.g.
Pediatric endocrinology and inborn errors of metabolism. New York: McGrawHill; 2009;141-52.
From the history, investigations and clinical presentation the infant can be said to be a case of inborn errors of metabolism of lipoproteins, glycine and carnitine.
The conference includes four scientific sessions and 16 lectures on topics such as Neonatal and Foetal Medicine, Nutrition in Infancy, and Inborn Errors of Metabolism.
Tandem mass spectrometry (often abbreviated as tandem MS or MS/MS) is considered an important new technology for neonatal screening and diagnosis of inborn errors of metabolism (IEMs).