Multiple deficiency

The water-soluble vitamins comprise the B complex and vitamin C and function as enzyme cofactors. Fofic acid acts as a carrier of one-carbon units. Deficiency of a single vitamin of the B complex is rare, since poor diets are most often associated with multiple deficiency states. Nevertheless, specific syndromes are characteristic of deficiencies of individual vitamins, eg, beriberi (thiamin) cheilosis, glossitis, seborrhea (riboflavin) pellagra (niacin) peripheral neuritis (pyridoxine) megaloblastic anemia, methyhnalonic aciduria, and pernicious anemia (vitamin Bjj) and megaloblastic anemia (folic acid). Vitamin C deficiency leads to scurvy. 

All disorders except those in group 5 are due to defects of nDNA and are transmitted by Mendelian inheritance. Disorders of the respiratory chain can be due to defects of nDNA or mtDNA. Usually, mutations of nDNA cause isolated, severe defects of individual respiratory complexes, whereas mutations in mtDNA or defects of intergenomic communication cause variably severe, multiple deficiencies of respiratory chain complexes. The description that follows is based on the biochemical classification. 

Nutritional deficiency diseases are relatively rare in the temperate zone. The etiology of numerous other clinical conditions involve vitamin deficiencies, due to faults in absorption, transfer, or utilization. Because of the central position of the vitamins as sources of coenzymes, such functional deficiencies are important in malabsorption, where the picture is often complicated by multiple deficiencies, in anemias where the defect is in general highly specific, and in many other diseases where the deficiency is secondary to other pathologic events, but nevertheless of grave consequences. 

Because xenobiotic metabolism involves many enzymes with different cofactor requirements, prosthetic groups, or endogenous cosubstrates, it is apparent that many different nutrients are involved in their function and maintenance. Determination of the effects of deficiencies, however, is more complex because reductions in activity of any particular enzyme will be effective only if it affects a change in a rate-limiting step in a process. In the case of multiple deficiencies, the nature of the rate-limiting step may change with time... 

Typical for each trace element or vitamin - complicated if multiple deficiencies... 

This chapter is concerned with the biochemical and pathological (morphologic) alterations that occur in cells, tissues, and organs of animals fed a diet deficient in L-tryptophan. Such deficiency disease may be induced in experimental animals by causing a single nutrient to be lacking in the diet. Such conditions are infrequently encountered in naturally occurring nutritional disease of animals and humans. Under most circumstances multiple deficiencies exist, which makes the interpretation complex. Also, the induction... 

Basner, R., Von-Figura, K., Glossl, J., Klein, U., Kresse, H., and Mlekusch, W. L., Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis. Pediatr. Res. 13,1316-1318... 

Several explanations of this multiple deficiency were put forward, but that proposed by Neufeld and her colleagues now seems well established and is... 

In sum, the record solidly establishes that the City had good cause to fear dispa-rate-impact liability. Moreover, the Court supplies no tenable explanation why the evidence of the tests multiple deficiencies does not create at least a triable issue under a strong-basis-in-evidence standard. 

As mentioned, some patients have documented deficiencies of several vitamins. Indeed, isolated clinically significant deficiency of a single vitamin is probably rare. Yet the import of multiple deficiencies is not always clear. Even for the best recognized avitaminoses, such as pellagra or the Wernicke-Korsakoff syndrome, defects in cognition are attributable to lack of more than just the one classically implicated vitamin. Deficiency of multiple water soluble vitamins pertains especially to alcoholics, to the elderly, and to severely ill hospitalized patients. For example, low folate stores, combined with inadequate niacin and thiamine, probably contribute to the chronic memory disorder of alcoholism. 

Deficiencies of various nutrients, primarily vitamins, impair cognition. The link is strongest for vitamin Bj2, thiamine, and niacin. Yet even for these, the role of mild subclinical or multiple deficiencies in the genesis of mental dysfunction is unclear. Most information in this field is based on animal studies often poorly applicable to the human condition or on clinical pathology complicated by advanced age, alcoholism, and intercurrent disease. There is a need for well controlled, double-blind, prospective trials to elucidate the cognitive effects of malnutrition. 

Aspinall, D.L., 1964. Multiple deficiency states associated with isoniazid therapy. British Medical Journal. 2(5418) 1177-1178. 

Protective methods, based on the prevention of polyneuritis. They were generally carried out with birds (fowls, pigeons, rice birds), because these animals develop characteristic symptoms of polyneuritis in several weeks on a simple diet of washed polished rice and water, before other disturbances appear on this multiple-deficient diet. By adding the material under assay to the basal diet at different levels, the minimum protective amount is determined. 

It is noteworthy that recent findings indicate that most persons suffering from pellagra have multiple deficiencies— that certain symptoms formerly associated with the disease are not relieved until thiamin and riboflavin are supplied along with niacin. 

Subik et al. discovered S. cerevisiae mutants in which multiple deficiencies in cytochromes aa and b were accompanied by loss of the oligomycin sensitivity of the mitochondrial ATPase. Mutants with similar properties were reported for S. pombe. It has been suggested that in S. cerevisiae,these pleiotropic effects were the result of a deficient mitochondrial protein synthesis. Total absence of mitochondrial ATPase activity has also been reported to accompany multiple cytochrome deficiencies in S. pombe and S. cerevisiae. In the latter case, mitochondrial protein synthesis was shown to be functional. ... 

The relatronshrp between molecular formulas multiple bonds and nngs rs referred to as the index of hydrogen deficiency and can be expressed by the equatron... 

The practice of estabHshing empirical equations has provided useflil information, but also exhibits some deficiencies. Eor example, a single spray parameter, such as may not be the only parameter that characterizes the performance of a spray system. The effect of cross-correlations or interactions between variables has received scant attention. Using the approach of varying one parameter at a time to develop correlations cannot completely reveal the tme physics of compHcated spray phenomena. Hence, methods employing the statistical design of experiments must be utilized to investigate multiple factors simultaneously. 

Bis(trifluoromethyl)-substituted heterodienes are electron-deficient species They therefore react preferentially with electron-rich multiple bond systems to give [4+2] cycloadducts (Diels-Alder reaction with inverse electron demand) [238]... 

Fatal infantile cytochrome c oxidase (CCO) deficiency is characterized by total absence of catalytic activity in skeletal muscle. This often occurs within the context of the Fanconi syndrome, or less commonly in association with a cardiomyopathy. Although the deficiency is global in skeletal muscle, with all fibers affected, only isolated scattered fibers show abnormal aggregations of mitochondria (ragged-red fibers). Multiple affected siblings within one family are frequently encountered and suggest autosomal recessive inheritance. The condition normally proves fatal before the age of six months and is characterized by worsening intractable lactic acidemia. 

In addition to the conditions described above, which involve deficiencies of individual respiratory complexes, there is another important group of mitochondrial disorders which are associated with defects of multiple respiratory complexes. The underlying abnormalities in these disorders are to be found within the mitochondrial genome, which encodes some subunits of all the respiratory complexes except complex II (Figure 12). 

Intramolecular nitrone cycloadditions often require higher temperatures as nitrones react more sluggishly with alkenes than do nitrile oxides and the products contain a substituent on nitrogen which may not be desirable. Conspicuously absent among various nitrones employed earlier have been NH nitrones, which are tautomers of the more stable oximes. However, Grigg et al. [58 a] and Padwa and Norman [58b] have demonstrated that under certain conditions oximes can undergo addition to electron deficient olefins as Michael acceptors, followed by cycloadditions to multiple bonds. We found that intramolecular oxime-olefin cycloaddition (lOOC) can occur thermally via an H-nitrone and lead to stereospecific introduction of two or more stereocenters. This is an excellent procedure for the stereoselective introduction of amino alcohol functionality via N-0 bond cleavage. 

Hibbs ML, Tarlinton DM. Armes J. Grail D. Hodgson G, Maghtto R, Stacker SA, Dunn AR Multiple defects in the immune system of Lyn-deficient mice, culminating in autoimmune disease. Cell 1995 83 301-311. Nishizumi H, Yamamoto T Impaired tyrosine phosphorylation and Ca + mobiUzation, but not degranulation, in Lyn-deficient bone marrow-derived mast cells. J Immunol 1997 158 2350-2355. 

As in molecular chemistry, an alternative path to compensate for electron deficiency is the formation of multiple bonds, through 7r-interactions, as in unsaturated and aromatic molecular systems. Our work in Houston focuses on probing the efficacy of the ZintI concept in rationaUzing stoichiometries, crystal structures and chemical bonding of complex electron-poof ZintI phases that exhibit novel i-systems. Their chemical bonding is reflected by their unusual crystal structures related to unsaturated hydrocarbons [53]. 

Multiple sul tase deficiency tesults in accumulation of sulfogalactosylcetamide, stetoid sulfates, and proteoglycans owing to a combined deficiency of atyl-sulfatases A, B, and C and stetoid sulfatase. 

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