Publications by authors named "Mohamed AlAmoudi"

Speech parameters may include perturbation measurements, spectral and cepstral modeling, and pathological effects of some diseases, like influenza, that affect the vocal tract. The verification task is a very good process to discriminate between different types of voice disorder. This study investigated the modeling of influenza's pathological effects on the speech signals of the Arabic vowels "A" and "O.

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Propionic acidemia (PA) is an autosomal recessive metabolic disorder. PA is characterized by deficiency of the mitochondrial enzyme propionyl CoA carboxylase (PCC) that results in the accumulation of propionic acid. Alpha and beta subunits of the PCC enzyme are encoded by the and genes, respectively.

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Aim: To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders.

Methods: A retrospective study conducted between 1 August 2005 and 31 December 2012, total of 775 000 newborns were screened from 139 hospitals distributed among all regions of Saudi Arabia. The NBS Program screens for 16 disorders from a selective list of inborn errors of metabolism (IEM) and endocrine disorders.

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Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), caused by mutated ACADM gene, is a potentially fatal fatty acid oxidation defect. Detection of MCADD is now part of tandem mass spectrometry (MS-MS)-based newborn screening programs worldwide. To date, more than 67 mutations have been reported to cause MCADD with a single allele, c.

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We describe an improved diagnostic method for tyrosinemia type 1 based on quantifying succinylacetone in dried blood spots by ultra-performance liquid chromatography tandem mass spectrometry. Succinylacetone extracted from a single 3/16 inch disk of specimen collection paper containing a dried blood spot was derivatized with dansylhydrazine, separated on an Acquity UPLC BEH C(18) column (2.1 x 50 mm, 1.

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Molybdenum cofactor and isolated sulphite oxidase deficiencies are two related rare autosomal recessive diseases characterized by severe neurological abnormalities, dislocated lens and mental retardation. Determination of three biochemical markers S-sulphocysteine (SSC), xanthine (XAN) and hypoxanthine (HXAN) in urine is essential for a definitive diagnosis and identification of the exact defect. We developed a rapid liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for the analysis of SSC, XAN and HXAN in urine.

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Glyceric acid is a highly polar chiral carboxylic acid that is usually not detected during routine organic acid analysis. Increased excretion is observed in two phenotypically distinct and rare inherited metabolic diseases, D-glyceric aciduria, and L-glyceric aciduria (also known as primary hyperoxaluria type 2). The determination of the exact configuration of the excreted glyceric acid is necessary for the accurate diagnosis of D-glyceric aciduria and for the differentiation between type 1 and type 2 primary hyperoxaluria.

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