Biomedical subjects

M Pourfarzam

Publications and source records attributed to M Pourfarzam.

39 records · Page 3Linked to original sources

PubMed1991

Products and intermediates of the beta-oxidation of [U-14C]hexadecanedionoyl-mono-CoA by rat liver peroxisomes and mitochondria.

1. The synthesis of [U-14C]hexadecanedionoyl-mono-CoA is described. 2. The beta-oxidation of [U-14C]hexadecanedionoyl-mono-CoA by purified rat liver peroxisomes and mitochondria is demonstrated. 3. The products of mitochondrial beta-oxidation of [U-14C]hexadecanedionoyl-mono-CoA include ketone bodies, citrate and acetylcarnitine. 4. Tetradecadionoyl-mono-CoA, hexadec-2-enedionyl-mono-CoA and hexadionoyl-mono-CoA were the only detectable intermediates formed by mitochondrial beta-oxidation, whereas acetyl-CoA and all saturated even-numbered intermediates of chain length C6-C16 were generated by peroxisomal beta-oxidation. 5. Hexadecanedionoyl-mono-CoA and hexadecanoyl-CoA were equally effective substrates for peroxisomal beta-oxidation, but hexadecanedionoyl-mono-CoA was a relatively poorer substrate for the mitochondrial pathway.

Acetylcarnitine↗

PubMedDate not supplied

[Diagnostic error of mental retardation of neurometabolic origin confirmed by mass sequential spectrometry].

INTRODUCTION: The metabolic screening test gives the first laboratory indication for neurometabolic alterations which can cause mental retardation. Some techniques such as thin layer chromatography, are still used in several countries to confirm the diagnosis of inborn errors of metabolism after a general screening test. PATIENTS AND METHODS: Two patients from a mentally retarded Colombian population were reported positive for the Nitrosonaphtol test, and remained positive to tyrosine metabolism alteration by thin layer chromatography, suggesting the correspondent management. In the present study we tried to confirm the last diagnosis, performing tandem mass spectrometry analysis of acylcarnitines and amino acids, on blood samples of all patients from the last study, which were found negative for any alteration. CONCLUSION: Is necessary to improve the diagnosis methods used in some countries in order to avoid mistakes that can change the life-style of the wrongly diagnosed patients.

Brain↗

PubMedDate not supplied

[Early diagnosis of neurometabolic diseases by tandem mass spectrometry. Acylcarnitine profile from cord blood].

INTRODUCTION: Tandem mass spectrometry (MS/MS) provides a multi-analyte technology for the detection of disorders characterised by the presence of abnormal concentrations of metabolites related to neurological deterioration. It has been recently recommended the use of this technique for early diagnosis of inherited metabolic diseases using cord blood. AIMS: To draw the attention to the inherited metabolic diseases detected by tandem mass spectrometry and to establish reference values for acylcarnitines in cord blood. PATIENTS AND METHODS: One hundred and thirty cord blood specimens from full-term and normal birth weight children (78 males and 52 females) were analysed by MS/MS. RESULTS AND CONCLUSION: Reference values for acylcarnitines from cord blood by MS/MS as a tool for the diagnosis of some neurometabolic diseases are provided. No statistical significant difference between sexes was found. We reviewed the literature related to the diagnosis of inherited metabolic diseases, with emphasis in fatty acid mitochondrial beta-oxidation using MS/MS.

Carnitine↗