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At least 19 recordsLinked to original sources
PubMed1975

Nutritional management of infants with inborn metabolic errors.

Inborn errors of metabolism can dramatically manifest themselves in the new born period or remain completely undetected. Awareness on the part of the physician, with every attempt being made to arrive at an early diagnosis, is the basis for a favorable outcome. Many approaches to therapy are possible but the most frequently used is that of substrate restriction in the form of dietary control. Frequent monitoring of growth as well as of plasma biochemical analysis can result in adequate nutritional status as well as in normal development.

Amino Acid Metabolism, Inborn Errors↗
PubMed1982

Inborn errors of metabolism.

Inborn errors of metabolism often cause neurological dysfunction. These disorders are most common in childhood, but adult-onset forms with a different clinical presentation are encountered, examples being Pompe disease, Tay-Sachs disease, metachromatic leukodystrophy, Gaucher disease, and Maroteaux-Lamy disease. In the evaluation of a patient with a possible inborn error of metabolism, simple screening tests may aid in the diagnosis and provide direction for more comprehensive laboratory analysis. In most cases, diagnosis can be established without a brain biopsy through biochemical and ultrastructural analysis of peripheral tissues, blood, and urine. New clinical, genetic, and biochemical variants of inherited metabolic disorders are being recognized through wider application of screening tests, improved specificity of laboratory analysis, cell complementation experiments, and the identification of enzyme activator factors. Accurate diagnosis is important for medical management, determining prognosis, and genetic counseling.

Adrenal Insufficiency↗
PubMed2006

Human biochemical genetics: an insight into inborn errors of metabolism.

Inborn errors of metabolism (IEM) include a broad spectrum of defects of various gene products that affect intermediary metabolism in the body. Studying the molecular and biochemical mechanisms of those inherited disorder, systematically summarizing the disease phenotype and natural history, providing diagnostic rationale and methodology and treatment strategy comprise the context of human biochemical genetics. This session focused on: (1) manifestations of representative metabolic disorders; (2) the emergent technology and application of newborn screening of metabolic disorders using tandem mass spectrometry; (3) principles of managing IEM; (4) the concept of carrier testing aiming prevention. Early detection of patients with IEM allows early intervention and more options for treatment.

Humans↗
PubMed2002

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 to other modalities. Certain basic principles of dietary management should be clearly understood for proper management of these disorders. Commercially available diets are very expensive and modification in routine Indian diet may be tried based on content of different nutrients but the desirable fine control is not achieved.

Child↗
PubMed1995

[The chromosome mapping of enzymatic genes related to inborn metabolic errors].

For many reasons knowledge of the chromosomal location of genetic markers is highly desirable. The application of somatic cell genetic and molecular biology techniques to chromosome mapping has provided a rapid development of the gene map of human genome. Here, the current status of the gene map of enzymes which are related to inborn metabolic errors.

Chromosome Mapping↗
PubMed1989

Nutritional therapy for selected inborn errors of metabolism.

Nutritional approaches are available for the management of several different classes of inborn metabolism errors. In phenylketonuria (PKU), phenylalanine is not properly metabolized; and its accumulation leads to neurologic dysfunction and metal retardation. Altering the diet to limit phenylalanine intake led to remarkable improvement in children with PKU. It was later found that instituting dietary therapy immediately after identification of the disorder in newborns prevented mental retardation. Throughout the 1960s nutritional therapies were found for other inborn disorders, including galactosemia, maple syrup urine disease, and homocystinuria. For the group of disorders associated with defects in the urea cycle, leading to profound hyperammonemia, therapy based on the concept of waste nitrogen excretion (i.e., by increasing excretion of urea cycle intermediates in the urine, nitrogen that would otherwise recycle as ammonia can be eliminated) dramatically produced better control of hyperammonemia and its consequences. Some inborn errors of metabolism respond to vitamin therapy. Biotin-related multiple carboxylase synthetase deficiency can be produced by either of two enzyme defects--holocarboxylase synthetase deficiency or biotinidase deficiency. Both are treatable with biotin supplementation. The symptoms of multiple carboxylase deficiency can also occur after intestinal resection or ingestion of raw eggs. Multiple carboxylase deficiency has been treated successfully in utero by giving the mother biotin supplements. Peroxisomal disorders may respond to dietary management. Liver disease in hereditary tyrosinemia may be accentuated by hypermethioninemia and treated by controlling the blood methionine level. Glycogen storage disease Type I, which causes hypoglycemia, can be controlled by oral administration of cornstarch.

Glycogen Storage Disease Type I↗
PubMedDate not supplied

[Inborn metabolic errors of urea cycle synthesis. Present possibilities of treatment].

The case history of an infant with congenital hyperammonaemia due to inherited ornithine-transcarbamylase deficiency is presented together with some basic data on his family. The metabolic cycle of urea synthesis is delineated with its enzymes and the possible inherited defects. The differential diagnosis of hyperammonaemia in the newborn infant is given. The successful contemporary method of therapy of urea cycle disorders is presented.

Amino Acid Metabolism, Inborn Errors↗
PubMed2000

The adult and adolescent clinic for inborn errors of metabolism.

Adolescent and adult clinics for patients with inborn metabolic errors are needed first to provide care to patients who develop distinctive problems as their different disorders impinge on education, career and family life. The selection of patients in this article illustrates the range of the problems. Fundamental research will be a shared interest with paediatricians and others, but outcomes of care and treatment in young adults and in patients in middle life must be a special concern of adult clinics. It is essential to gather that information. The best model is probably an outpatient service for all ages in a single centre with paediatricians and adult physicians contributing and sharing access to dietary and laboratory services. Such a model would be best for generating the meetings, case discussions and initiatives that contribute to a thriving and energetic unit. Clearly identified centres in each country would be an effective means of acquiring the information on the adult follow-up of these uncommon disorders.

Adolescent↗