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Determination of the equilibrium constants of associating protein systems. III. Evaluation of the weight fraction of monomer from the weight-average partition coefficient (application to bovine liver glutamate dehydrogenase) (1969)

Chun, Paul W. ; Kim, S. J. ; Stanley, C. A. ; [et al.]

s.l. : American Chemical Society

Biochemistry 8 (1969), S. 1625-1632

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ISSN: 1520-4995

Source: ACS Legacy Archives

Topics: Biology , Chemistry and Pharmacology

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1021/bi00832a044

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Impairment of calcium mobilization in phagocytic cells in glycogen storage disease type 1b (1993)

Korchak, H. M. ; Garty, B. -Z. ; Stanley, C. A. ; [et al.]

Springer

European journal of pediatrics 152 (1993), S. 39-43

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ISSN: 1432-1076

Keywords: Glycogen storage disease ; Superoxide anion ; Calcium mobilization ; Neutrophil ; Monocyte

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract Patients with glycogen storage disease (GSD) type 1b, in contrast to patients with GSD 1a, are susceptible to recurrent bacterial infections suggesting defective phagocytic function. We have demonstrated a selective defect in respiratory burst activity but not in degranulation by phagocytic cells in GSD 1b but not in GSD 1a. The respiratory burst abnormality in phagocytic cells from GSD 1b patients was associated with impaired calcium mobilization, whereas these processes were normal in GSD 1a patients. Therefore, the alteration in calcium mobilization was an indication of a signalling defect in phagocytic cells from GSD 1b. However, calcium mobilization was normal in lymphocytes, indicating that defective calcium mobilization was not a global finding in circulating leukocytes, but was specific to phagocytic cells. Calcium mobilization in response to ionomycin was reduced suggesting decreased calcium stores in GSD 1b neutrophils. Therefore, altered phagocytic cell function in GSD 1b patients appears to be associated with diminished calcium mobilization and defective calcium stores. This defectice calcium signalling was associated with a selective defect in respiratory burst activity but not degranulation.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF02072086

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Glycine andl-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency (1995)

Rutledge, S. L. ; Berry, G. T. ; Stanley, C. A. ; [et al.]

Springer

Journal of inherited metabolic disease 18 (1995), S. 299-305

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ISSN: 1573-2665

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Summary Genetic deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC) is a rare inborn error of leucine metabolism producing an organic acidaemia. With accumulation of 3-methylcrotonyl-CoA, there is increased production of 3-hydroxyisovaleric acid, the glycine conjugate (3-methylcrotonylglycine), and the carnitine conjugate (3-hydroxyisovalerylcarnitine). These conjugates represent endogenous detoxification products. We studied excretion rates of these conjugates at baseline and with glycine and carnitine therapy in an 8-year-old girl with 3-MCC deficiency. Her preadmission diet was continued. Plasma and urine samples were obtained after 24h of each of the following:l-carnitine 100mg/kg per day and glycine 100, 175 and 250mg/kg per day. Plasma and urinary carnitine levels were reduced by 80% and 50%, respectively with abnormal urinary excretion patterns. These normalized with carnitine therapy. Acylcarnitine excretion increased with carnitine therapy. The glycine conjugate, 3-methylcrotonylglycine (3-MCG), was the major metabolite excreted at all times and its excretion increased with glycine therapy. Clearly, in 3-MCC deficiency the available glycine and carnitine pools are not sufficient to meet the potential for conjugation of accumulated metabolites, suggesting a possible therapeutic role for glycine and carnitine therapy in this disorder.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00710419

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Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency (1992)

Stanley, C. A. ; Sunaryo, F. ; Hale, D. E. ; [et al.]

Springer

Journal of inherited metabolic disease 15 (1992), S. 785-789

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ISSN: 1573-2665

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Summary In a boy with a defect in fatty acid oxidation due to the hepatic form of carnitine palmitoyltransferase-1 deficiency, plasma carnitine concentrations were found to be twice normal. The elevation in plasma carnitine levels was accompanied by an unusually high renal threshold for free carnitine, suggesting a secondary increase in carnitine transport. Similar to other fatty acid oxidation disorders involving the carnitine cycle, urinary dicarboxylic acids were not abnormally elevated during illnesses. The combination of elevated plasma carnitine levels and absence of dicarboxylic aciduria may help to distinguish the hepatic form of carnitine palmitoyltransferase-1 deficiency from other defects in fatty acid oxidation.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF01800021

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Medium-chain acyl-CoA dehydrogenase deficiency: Metabolic effects and therapeutic efficacy of long-terml-carnitine supplementation (1989)

Treem, W. R. ; Stanley, C. A. ; Goodman, S. I.

Springer

Journal of inherited metabolic disease 12 (1989), S. 112-119

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ISSN: 1573-2665

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Summary Medium-chain acyl-CoA dehydrogenase deficiency is a recently described inborn error of metabolism characterized by episodes of coma and hypoketotic hypoglycaemia in response to prolonged fasting. Secondary carnitine deficiency has been documented in these patients as well as the excretion in the urine of medium-chain-length acyl carnitine esters, such as octanoylcarnitine. Based on the potential toxicity of medium-chain fatty acid metabolites and the beneficial responses of patients with other inborn errors of metabolism and secondary carnitine deficiency, oral carnitine has been proposed as treatment for children with medium-chain acyl-CoA dehydrogenase deficiency. We report the results of carefully monitored fasting challenges of an infant with this deficiency both before and after 3 months of oral carnitine therapy. Carnitine supplementation failed to prevent lethargy, vomiting, hypoglycaemia and accumulation of free fatty acids in response to fasting despite normalization of plasma carnitine levels and a marked increase in urinary excretion of acyl-carnitine esters. Potentially toxic medium-chain fatty acids accumulated in the plasma in spite of therapy. Based on this study of one patient, we stress that avoidance of fasting and prompt institution of glucose supplementation in situations when oral intake is interrupted remain the mainstays of therapy for medium-chain acyl-CoA dehydrogenase deficient patients.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF01800712

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