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maple syrup urine disease/carbohydrate
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Inhibition of acetylcholine synthesis and of carbohydrate utilization by maple-syrup-urine disease metabolites.
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[Management of a case of maple syrup urine disease--the use of gluco-insulinotherapy].
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We report here the treatment and poor outcome of a case of Maple Syrup Urine Disease with late diagnosis and retrieval (2 and 5 months, respectively). As the proband had quite high levels of plasmatic leucine (1956 micromol/L for a normal upper limit of 77), we started immediately with a
Diagnosis of inborn errors of metabolism.
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Systematic detection of inborn errors of metabolism (IEM) has usually encountered difficulties in developing countries. We present our experience in a high-risk population in Mexico between 1973 and 1998 with particular reference to the last 10 years, during which time infrastructure and support
Inherited metabolic disorders in Thailand--Siriraj experience.
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The incidence of inborn errors of metabolism (IEM) in Thailand is yet unknown. However, by estimation it is generally accepted to be 1 in 5,000. From a survey in 7 medical schools from different parts of the country and a large pediatric hospital in Bangkok, we found numerous cases of IEM
HEPNet: A Knowledge Base Model of Human Energy Pool Network for Predicting the Energy Availability Status of an Individual.
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HEPNet is an electronic representation of metabolic reactions occurring within human cellular organization focusing on inflow and outflow of the energy currency ATP, GTP and other energy associated moieties. The backbone of HEPNet consists of primary bio-molecules such as carbohydrates, proteins and
Cerebellar involvement in metabolic disorders: a pattern-recognition approach.
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Inborn errors of metabolism can affect the cerebellum during development, maturation and later during life. We have established criteria for pattern recognition of cerebellar abnormalities in metabolic disorders. The abnormalities can be divided into four major groups: cerebellar hypoplasia (CH),
Nutrition support of inborn errors of amino acid metabolism.
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Programs for nutrition support of patients with phenylketonuria, maternal phenylketonuria, branched chain ketoaciduria and vitamin B-6 non-responsive homocystinuria were written in BASIC. These programs plan diets to fill diet prescriptions using natural foods, available amino acid-free or
Application of glass capillary-column gas chromatography-mass spectrometry to the studies of human diseases.
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Open-tubular glass capillary columns have been used in gas chromatography in combination with mass spectrometry (GC-MS) and computer methods to study human diseases. Patients with maple syrup urine disease excrete not only alpha-keto and alpha-hydroxy acids but also six other metabolites which
An introduction to nutritional treatment in inborn errors of metabolism--different disorders, different approaches.
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Treatment of metabolic disease aims to restore homeostasis, where possible. This can be achieved in a number of ways. For disorders of intermediary metabolism, treatment involves a thorough understanding of the disorder and the pathogenesis of the deleterious effects The various approaches indicated
"Classical organic acidurias": diagnosis and pathogenesis.
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Organic acidurias are inherited metabolic diseases due to the deficiency of an enzyme or a transport protein involved in one of the several cellular metabolic pathways devoted to the catabolism of amino acids, carbohydrates or lipids. These deficiencies result in abnormal accumulation of organic
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