ABSTRACT
This is the first report of a patient with aminoacylase I deficiency. High amounts of N-acetylated amino acids were detected by gas chromatography-mass spectrometry in the urine, including the derivatives of serine, glutamic acid, alanine, methionine, glycine, and smaller amounts of threonine, leucine, valine, and isoleucine. NMR spectroscopy confirmed these findings and, in addition, showed the presence of N-acetylglutamine and N-acetylasparagine. In EBV transformed lymphoblasts, aminoacylase I activity was deficient. Loss of activity was due to decreased amounts of aminoacylase I protein. The amount of mRNA for the aminoacylase I was decreased. DNA sequencing of the encoding ACY1 gene showed a homozygous c.1057 C>T transition, predicting a p.Arg353Cys substitution. Both parents were heterozygous for the mutation. The mutation was also detected in 5/161 controls. To exclude the possibility of a genetic polymorphism, protein expression studies were performed showing that the mutant protein had lost catalytic activity.
Subject(s)
Amidohydrolases/deficiency , Amidohydrolases/metabolism , Metabolism, Inborn Errors/enzymology , Amidohydrolases/genetics , Animals , Arginine/genetics , Arginine/metabolism , Cells, Cultured , Genome, Human/genetics , Humans , Infant, Newborn , Lymphocytes/enzymology , Male , Metabolism, Inborn Errors/genetics , Metabolism, Inborn Errors/urine , Mutation/genetics , Peptide Hydrolases/metabolism , RNA, Messenger/geneticsABSTRACT
A study was conducted in Temeke District, a suburban area of Dar-es-Salaam, Tanzania, to assess the usefulness of a definition coined by mothers in the identification and subsequent management of diarrhoeal diseases. The mothers were asked about stool frequency and consistency of diarrhoeal episodes of their children aged under 5 and at what stage they would initiate remedial action. From their responses, seven categories of stool frequency per 12-hour period were established. Among the 630 mothers studied, it was observed that a majority of mothers (92%) would take remedial action for diarrhoea when the stool frequency was 3 or more per 12-hour period. It was, therefore, concluded that the mothers' definition for diarrhoea, being simpler, less confusing and less varied than the other definitions used commonly, could be adopted in surveys and epidemiological studies.
PIP: A study was conducted in Temeke District, a suburban area of Dar-es-Salaam, Tanzania, to assess the usefulness of a definition coined by mothers in the identification and subsequent management of diarrheal diseases. The mothers were asked about stool frequency and consistency of diarrheal episodes of their children aged under 5 and at what stage they would initiate remedial action. From their responses, 7 categories of stool frequency per 12-hour period were established. Among the 630 mothers studied, it was observed that a majority of mothers (92%) would take remedial action for diarrhea when the stool frequency was 3 or more per 12-hour period. It was, therefore, concluded that the mother's definition for diarrhea, being simpler, less confusing and less varied than the other definitions used commonly, could be adopted in surveys and epidemiological studies. (Author's).
