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Biomedical subjects

K H Carpenter

Publications and source records attributed to K H Carpenter.

17 recordsLinked to original sources
PubMed1994

Prenatal diagnosis of glutathione synthase deficiency.

Prenatal diagnosis for glutathione synthase (EC 6.3.2.3) deficiency in two pregnancies of an at-risk couple was performed on amniotic fluid taken at 16 weeks' gestation. 5-Oxoproline (pyroglutamic acid) levels were 970 and 790 mumol/l compared with the normal mean value of 29 mumol/l (range 13-51 mumol/l). The pregnancies were terminated and the diagnosis in one case was subsequently confirmed by assay of glutathione synthase in cultured fetal fibroblasts. In the other, post-mortem tissue samples failed to grow.

Adult↗
PubMed1994

Quality assessment of urinary organic acid analysis.

The number of known inherited metabolic disorders resulting in an organic aciduria has increased steadily over the past two decades. Prompt and reliable detection is both clinically and technically demanding but is essential if appropriate treatment is to be undertaken. This is the first study of laboratory performance in the detection of these disorders to be undertaken in the UK. Some conditions were accurately identified by most laboratories: for example for maple syrup urine disease, 12 of 14 laboratories provided an appropriate response and medium chain acyl-CoA dehydrogenase deficiency was correctly identified by 15 of 17 laboratories. However, accuracy of detection was poorer for other conditions: for example, only eight of 17 laboratories detected tyrosinaemia type 1 and nine of 18 laboratories detected 4-hydroxybutyric aciduria. The strongest correlation with good performance was obtained by comparison with the extent of peak identification: r = 0.62, P = 0.002. The need for regular attendance at scientific symposia was also supported by a weaker positive correlation with the average score achieved, P = 0.08. Evidence also suggested that some of the laboratories with a low workload performed less well. No significant difference in performance could be demonstrated between the 17 laboratories who used gas chromatography-mass spectrometry and the six participants who used gas chromatography alone.

Acyl-CoA Dehydrogenase↗
PubMed1993

Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.

Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency has not been thought to be associated with significant neonatal symptoms. To determine the validity of this, all known MCAD cases from New South Wales were reassessed. A total of 16 confirmed and three presumed cases has been identified in New South Wales, from 15 families. The casenotes of patients were reviewed, and where possible the mothers interviewed, either directly or by telephone, to obtain information about neonatal events. Six of the 16 confirmed cases had significant neonatal symptoms, with onset from 17 hours to 3 days of age. All required intravenous dextrose and four of the six needed other interventions, including hospital transfer. One baby died. All six were breast fed, but so were five of the eight asymptomatic neonates for whom information was available. Four of the six symptomatic neonates were homozygous for the common MCAD mutation, an A to G transition at position 985, and one was heterozygous. It is concluded that serious neonatal symptoms are common in MCAD. Newborn siblings of MCAD cases must have careful monitoring and support during the first few days of life.

Acyl-CoA Dehydrogenase↗
PubMed1993

Vitreous humour and cerebrospinal fluid hypoxanthine concentration as a marker of pre-mortem hypoxia in SIDS.

AIMS: To assess the rate at which premortem hypoxia occurs in sudden infant death syndrome (SIDS) when compared with death in early childhood. METHODS: The hypoxanthine concentration was measured as a marker of premortem hypoxia in vitreous humour and cerebrospinal fluid samples obtained at necropsy from 119 children whose ages ranged from 1 week to 2 years. RESULTS: Increasing interval between death and necropsy was accompanied by an increase in the hypoxanthine concentration of vitreous humour for the first 24 hours, at a rate of 8.3 mumol/l/hour. Thereafter, there was little change with time, and the results wer corrected to 24 hours according to a regression equation. Cerebrospinal fluid concentrations showed no significant change with time following death. Patients were divided into three groups according to the cause of death: SIDS, cardiac or pulmonary disease, and others. Median values for the cerebrospinal fluid hypoxanthine concentrations were not significantly different among the groups and no difference could be shown between the vitreous humour hypoxanthine concentration in cases of SIDS and those children dying from other causes. Patients with established cardiac or pulmonary disease had a significantly reduced vitreous humour hypoxanthine concentration which may have reflected the premortem use of artificial ventilation. CONCLUSIONS: The results of this study do not support the view that pre-mortem hypoxia is a common feature in SIDS when compared with other causes of death.

Biomarkers↗
PubMed1992

A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition.

A term neonate became lethargic and hypotonic at 46 hours of age and died 10 hours later despite supportive therapy. Urinary organic acids indicated medium-chain acyl-coenzyme A dehydrogenase deficiency, and DNA studies confirmed this disorder. Neonatal symptoms in this enzyme deficiency have rarely been reported, and recent reviews have ignored or discounted this presentation.

Acyl-CoA Dehydrogenase↗
PubMed1992

Evaluating library resources for accreditation: results of a study.

When the nursing collection at the University of Illinois Library of the Health Sciences was evaluated in 1990 for an accreditation self-study for the National League for Nursing, the evaluation was broadened to study resources, faculty participation in selecting them, and completeness of holdings. To evaluate holdings, lists were checked and conspectus and comparative statistical data were analyzed. Organization and collection development were also described, to document faculty input. User services and on-site and remote access were briefly reviewed to document how resources were made available. The results demonstrated that the library provided an acceptable level of support for nursing studies at the University of Illinois at Chicago.

Accreditation↗
PubMed1990

Abnormalities of carbohydrate metabolism and of OCT gene function in the Rett syndrome.

The pathogenetic basis of the Rett syndrome (RS) is unknown: an X-linked dominant, male-lethal gene defect is thought likely. We present a girl with RS who has defects both of the urea cycle and of carbohydrate metabolism resulting in fasting hypoglycaemia, post-prandial hyperlactataemia and excess urinary orotic acid excretion after alanine load. Her sister has a similar clinical picture, but less marked metabolic anomalies. The mother of these sisters has abnormal urinary orotic acid excretion; she transmitted opposite ornithine carbomoyltransferase (OCT) alleles to the two girls. Another girl with RS has similar metabolic responses to fasting and to carbohydrate load. We conclude that RS may be an aetiologically homogeneous condition, but that it includes a variable pattern of metabolic anomalies, and that the gene defect is distinct from the OCT locus.

Adolescent↗
PubMed1990

D(+)-glyceric aciduria: etiology and clinical consequences.

A family comprising mother, father, and five children is described. Four of the children were found to excrete massive amounts of D(+)-glyceric acid in their urine. This was verified by gas chromatography-mass spectrometry and the configuration determined by capillary gas chromatography of O-acetylated menthyl esters. The excretion ranged from 10.8 to 19.9 mmol/24 h. The remaining child and the parents showed no evidence of this unusual metabolite. The virtual absence of clinical manifestations in this family was particularly interesting. Only two of the children showed any clinical abnormality and this was limited to mild microcephaly and speech delay; the other two children found to excrete large amounts of D(+)-glycerate were healthy and developmentally normal at 7 y and 9 y of age. There was a marked increase in the excretion rate of D(+)-glycerate in response to both oral fructose and serine loading. These results are consistent with a deficiency of D(+)-glycerate kinase and indicate the potentially benign nature of this disorder.

Administration, Oral↗
PubMed1984

Experience with a simple high-performance liquid chromatography method for the analysis of purine and pyrimidine nucleosides and bases in biological fluids.

Purine and pyrimidine nucleosides and bases were analysed using an isocratic reverse-phase HPLC technique and utilising simple sample preparation. The method has been successfully used to separate a large number of biologically occurring nucleic acid products within a 30-minute period and to identify them by their chromatographic and optical properties. A number of metabolic disorders have been identified, including hypoxanthine-guanine phosphoribosyl transferase and ornithine carbamyl transferase deficiencies. The method has been in routine use for 2 years performing both quantitative and qualitative analysis and has proved to be robust and reliable.

Asphyxia Neonatorum↗