Deterioration of solutions of reduced nicotinamide adeninedinucleotide (NADH2) during storage.
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L-Lactate Dehydrogenase↗
Biomedical subjects
D A Applegarth
Publications and source records attributed to D A Applegarth.
Prenatal diagnosis of pyruvate carboxylase deficiency.
Prenatal diagnosis of pyruvate carboxylase (PC) deficiency was performed in a family at risk for the acute neonatal form of this disease which manifests secondary citrullinemia. The diagnosis of an affected child was confirmed by enzyme assay and 3H-biotin labelling of proteins in cultured fetal skin fibroblasts. Sufficient amniocytes were cultured in 3-4 weeks for enzyme analysis in two centres. Citrulline concentration in amniotic fluid (AF) was normal in the affected fetus.
Amino Acid Metabolism, Inborn Errors↗
Prenatal diagnosis of non-ketotic hyperglycinemia.
We describe successful prenatal diagnosis in four pregnancies at risk for non-ketotic hyperglycinemia, two affected and two unaffected, using the glycine level and the glycine/serine ratio in amniotic fluid obtained at 16 weeks gestational age. Although this method of prenatal diagnosis for non-ketotic hyperglycinemia has been effective in our hands the narrow differences between affected and unaffected pregnancies indicate the need for caution concerning its reliability.
Amino Acid Metabolism, Inborn Errors↗
Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.
Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder of glycine metabolism caused by a defect in the glycine cleavage enzyme complex (GCS). GCS is a complex of four proteins encoded on four different chromosomes. In classical neonatal NKH, levels of cerebrospinal fluid (CSF) glycine and CSF/plasma glycine ratio are very high but the CSF results, in particular, may be more difficult to interpret in later-onset, milder, or otherwise atypical NKH. Enzymatic confirmation of NKH requires a liver sample. Delineation of which protein of the complex is defective is necessary to screen for mutations in the appropriate gene. Except for Finnish NKH patients, few recurrent mutations have yet been found, although analysis of the P-protein gene (the site of the defect in the majority of patients) is at an early stage. Prenatal diagnosis by GCS assay in chorionic villus biopsies is not completely reliable and will be replaced by molecular analysis in families where the mutations are known.
Animals↗
Laboratory diagnosis of inborn errors of metabolism in children.
A compendium of tests available to diagnose children with inborn errors of metabolism is presented. It is intended to provide the pediatric pathologist with a rational way of using laboratory tests to investigate a patient who is suspected of having an inborn error of metabolism. It is intended to bridge the gap between the ward and the laboratory by providing a framework for investigations of such children.
Bone Diseases, Metabolic↗
A co-twin fetus papyraceus as a cause of elevated AFP and acetylcholinesterase in the amniotic fluid of the normal co-twin.
An elevated amniotic fluid alpha-fetoprotein (AF-AFP) level together with a positive acetylcholinesterase (AChE) band is strongly predictive of neural tube defect (NTD) in the fetus. We report such results in a pregnancy in which the fetus was found to be normal after termination. Among the placental fragments was found a sac containing a prenatally undetected co-twin fetus papyraceus. We suggest that pregnant women with such laboratory results but lacking sonographic evidence of NTD should have a high-level untrasonographic investigation, as well as a thorough pathologic examination of both placenta and fetus in cases of termination.
Acetylcholinesterase↗