Inborn Errors of Metabolism: Challenges and Management
نویسندگان
چکیده
منابع مشابه
Dietary management of inborn errors of metabolism.
Inborn errors of metabolism are individually rare but are an important cause of mortality and morbidity in infants and children. Dietary therapy is the mainstay of treatment in phenylketonuria, maple syrup urine disease, homocystinuria, galactosemia and glycogen storage disease (Type I/III). Some disorders like urea cycle disorders and organic acidurias require dietary modification in addition ...
متن کاملNutrition and inborn errors of metabolism: challenges in Phenylketonuria
Phenylketonuria (PKU) is caused by the deficiency of the phenylalanine hydroxylase enzyme, which converts phenylalanine (Phe) to tyrosine. If left untreated from birth, this deficiency results in high levels of Phe in the blood, neurotoxic to the brain [1].The restriction of dietary Phe represents the mainstain of PKU management. PKU diet is mainly made up by variable amounts of vegetables and ...
متن کاملDiagnosis and management of inborn errors of metabolism.
Few paediatricians will have avoided the predicament of being faced with a desperately ill neonate for whom a diagnosis is not immediately obvious. The majority of such infants will have comparatively common neonatal problems such as systemic infection, congenital heart disease, necrotising enterocolitis, or intracranial haemorrhage. An appreciable minority, however, will have a potentially tre...
متن کاملGarrod's Inborn Errors of Metabolism
Dr. Van Liere's earlier book on this subject* was probably the first detailed study of the biology of low oxygen pressure. Investigations of the effect of high altitude, using mountain climbing or balloon ascent as a tool, go back to the late eighteenth century, but the major impetus seems to have been the need for military aviation in World War I. This interest was maintained until about 1935 ...
متن کاملInborn errors of metabolism: iron.
The iron content of the body is normally closely regulated. Despite this, iron deficiency anaemia is common in women because iron losses due to menstruation and childbirth are not always compensated for by iron absorption from the diet. The role of transferrin in delivering iron to cells and of ferritin in storing iron within cells is well understood but the proteins involved in iron transport ...
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ژورنال
عنوان ژورنال: Indian Journal of Clinical Biochemistry
سال: 2013
ISSN: 0970-1915,0974-0422
DOI: 10.1007/s12291-013-0371-7