caa a22 4500 469044241 CHVBK 20180323132819.0 cr unu---uuuuu 170328e19921101xx s 000 0 eng 10.1007/BF01800227 doi (NATIONALLICENCE)springer-10.1007/BF01800227 Differential diagnosis of hydroxydicarboxylic aciduria based on release of3H2O from [9,10-3H]myristic and [9,10-3H]palmitic acids by intact cultured fibroblasts [Elektronische Daten] [S. Olpin, N. Manning, K. Carpenter, B. Middleton, R. Pollitt] Summary: Intact cultured fibroblasts from patients with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase release3H2O from [9,10-3H]myristic acid and [9,10-3H]palmitic acid more slowly than normal. The ratio of activity (palmitate/myristate) is also low and the expression (rate with palmitate)2/(rate with myristate) gives good differentiation between affected and unaffected cells. In some patients who have shown hydroxydicarboxylic aciduria when unwell there is reduced3H2O production from [9,10-3H]myristic and [9,10-3H]palmitic acids by intact cultured fibroblasts but normal 3-hydroxyacyl-CoA dehydrogenase activities in disrupted cells. The palmitate/myristate ratio is higher than in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. The basic defect in these patients is still unknown but it is suggested that caution be used over the administration of medium-chain triglyceride. SSIEM and Kluwer Academic Publishers, 1992 Olpin S. Neonatal Screening Laboratory and University Department of Paediatrics, The Children's Hospital, S10 2TH, Sheffield aut Manning N. Neonatal Screening Laboratory and University Department of Paediatrics, The Children's Hospital, S10 2TH, Sheffield aut Carpenter K. Department of Biochemistry, University of Nottingham Medical School, Queen's Medical Centre, NG7 2UH, Nottingham, UK aut Middleton B. Department of Biochemistry, University of Nottingham Medical School, Queen's Medical Centre, NG7 2UH, Nottingham, UK aut Pollitt R. Neonatal Screening Laboratory and University Department of Paediatrics, The Children's Hospital, S10 2TH, Sheffield aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/6(1992-11-01), 883-890 0141-8955 15:6<883 1992 15 10545 https://doi.org/10.1007/BF01800227 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800227 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Olpin S. Neonatal Screening Laboratory and University Department of Paediatrics, The Children's Hospital, S10 2TH, Sheffield aut NATIONALLICENCE 700 1- Manning N. Neonatal Screening Laboratory and University Department of Paediatrics, The Children's Hospital, S10 2TH, Sheffield aut NATIONALLICENCE 700 1- Carpenter K. Department of Biochemistry, University of Nottingham Medical School, Queen's Medical Centre, NG7 2UH, Nottingham, UK aut NATIONALLICENCE 700 1- Middleton B. Department of Biochemistry, University of Nottingham Medical School, Queen's Medical Centre, NG7 2UH, Nottingham, UK aut NATIONALLICENCE 700 1- Pollitt R. Neonatal Screening Laboratory and University Department of Paediatrics, The Children's Hospital, S10 2TH, Sheffield aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/6(1992-11-01), 883-890 0141-8955 15:6<883 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer