Disorders of metabolism

Koeberl DD, Young SP, Gregersen NS, Voddey J, Smith WE, Benjamin DK Jr, An Y, Weavil SD, Chaing SH, Bah D, McDonald MT, Kishnani PS, Chen YT, Millington DS. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected... 

Quality assessment is performed by including pooled plasma as an internal control in every run. External quality control is achieved using samples obtained from the European Research Network for evaluation and improvement of screening, Diagnosis and treatment of Inherited disorders of Metabolism (ERNDIM) Special Assays Scheme, run according the scheme schedule. 

ERNDIM European Research Network for evaluation and improvement of screening, Diagnosis and treatment of Inherited disorders of Metabolism... 

One of the earliest and perhaps most rewarding introductions of metabolomics in pediatric medicine has occurred with the bioanalysis of endogenous substrates and altered metabolism that may be indicative or predictive of significant disease states. Newborn and metabolic screening of inherited disorders of metabolism has, in many respects, served as a cornerstone for innovative... 

According to current clinical practice, only a small part of the information obtained from examination of tissues and biological fluids is used. For disorders of metabolic pathways, reflected in the qualitative and quantitative composition of metabolites of endogenous compounds, analysis of the results of these examinations can be the basis for verification of hypotheses on the causes of such diseases. 

Homocamosinosis. This disease is accompanied with pronounced increase of homocamosine level in brain and cerebrospinal liquid as well as camosine in urea with simultaneous disability to metabolize anserine into N -methyl-histidine (see [107]). Normal level of camosine and homocamosine is exceeded 20 and more times and this is accompanied with apparent neurological deficit. At the same time, relatives of the patients can get similar shifts in dipeptides metabolism with no neurological symptomatic. The cause of such disorder of metabolism in patients with homocamosinosis is that camosine splitting enzyme, carnosinase is mainly present in the inactive form [109,110],... 

Uric acid is the end product of purine metabolism in man. Consequently, abnormal levels of uric acid serve to indicate disorders of metabolism of purines or nucleic acids. Serum levels of uric acid range from 200 to 420 pmol/L In males 15 to 20% and 3 to 4% of females suffer from hyperuricaemia. 

Diabetes mellitus is a systemic disorder of metabolism tiiat stems from a deficiency of insulin, the hormone needed to stimulate die influx of fatty acids, amino acids, and glucose into cells. In recent years, the incidence of diabetes has reached epidemic proportions and is associated with long-term damage, dysfunction, and failure of a number of organ systems. In addition to being a leading cause of heart attacks, strokes, end-stage renal disease, and blindness, diabetes also has detrimental effects on die peripheral vasculature and die peripheral nervous system. ... 

A method based on gel filtration, used in conjunction with specific automated analyses, has permitted the separation of high and low molecular weight urinary material. The potential diagnostic use of the method, based on the elution profiles obtained, was outlined. The method has been applied to a study of some of the inherited disorders of metabolism. ... 

There are 11 inherited disorders of metabolism which are characterized by the accumulation of different types of sphingolipids in various organs and tissues. Many of these diseases are fatal in the first few years of life although when the central nervous system is unaffected there are possibilities for treatment (see below). 

Determination of the concentration of all enzyme molecules, inactive as well as active, is essential in studying the clinical chemistry for diagnosis of disorders of metabolism because activity measurements alone are not sufficient for distinguishing whether the increase represents an increase in the number of all enzyme molecules present in sample in some cases, inactive molecules are released from damaged tissues and a change in activity may not necessarily be directly related to the change in the number of molecules of enzyme present. 

Finally, the inspiration for Medical Biochemistry at a Glance has developed from my book Metabolism at a Glance. The latter is a more advanced book but the similarity of style between these two books facilitates progression to a higher level by students specialising in metabolism and disorders of metabolism. 

Inborn errors of metabolism the title of a book by Archibold Garrod published in 1902, in which the author recognized the relationship between genes and enzymes. Many metabolic disorders caused by the absence of a protein or the synthesis of a biologically inefficient form of a protein are genetic in origin. I. e. m. is therefore a biochemical and genetic concept synonymous with inherited metabolic block, inherited metabolic disorder, heritable disorder of metabolism, enzymopathy, and other similar terms. 

Disorders of acid-base physiology which are not of respiratory origin are called metabolic disorders. This nomenclature derives from the fact that such disorders result from abnormal metabolism. Metabolic disorders of metabolism may also be due to excessive intake of acid or alkali or to failure of renal function, when the tubular mechanisms for formation of acid or alkaline urine are impaired. 

Describe and explain the contributions of different buffer systems to respiratory and metabolic disorders of metabolism. 

In reality, gout is an inherited disorder of metabolism in which uric acid in excessive amounts appears in blood and tissues and produces a painful swelling of the joints of the hands or feet, especially the big toe. 

Infant malnutrition—A diabeticlike disorder of metabolism is often found in malnourished infants and children around the world. Therefore, it is noteworthy that this disorder was promptly corrected by the administration... 

Disorders of metabolism in the liver. The liver may contribute to elevated levels of ketones, cholesterol, glycoproteins, glucose, and fat and there may be reductions in the synthesis of carbohydrate reserves (glycogen) and in the utilization of carbohydrate for energy. 

Zinc. Diabeticlike disorders of metabolism have been observed in zinc-deficient animals, but the btisis for this abnormality is not understood. 

---