Posts By: Yannis Trakadis

Exome sequencing in metabolic genetics

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Combined Malonic and Methylmalonic Aciduria (CMAMMA) is a rare recessive inborn error of metabolism caused by malonyl-CoA decarboxylase (MCD) deficiency. Alfares et al. identified two probands with a non-classical CMAMMA variant through urine newborn screening. In these cases MMA excretion was higher than MA and the clinical courses were benign. MYLCD gene sequencing was normal […]

urinary biomarker for response to ERT in Fabry

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Kistler et al. performed a urine proteomic analysis based on capillary electrophoresis coupled to mass spectrometry.  They identified a urinary biomarker model that seems to be of diagnostic use for Fabry disease in female patients. This pattern exhibited 88.2% sensitivity and 97.8% specificity when tested in an independent validation cohort. Biomarkers correlating with measures of […]

neuropsych functions in adults with early treated PKU

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Patients with PKU treated early have been reported to have deficits in several frontal lobe-related neuropsychological tasks such as the Stroop task. This study compared 17 adult male patients with early-treated classic PKU to 15 male healthy controls using a Color-word matching Stroop task in a functional magnetic resonance imaging (fMRI) study at 3T. Participants […]

Do adult patients with PKU need the strict Phe-restricted diet?

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High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial. ten Hoedt et al. 2011 J Inherit Metab Dis (2011) 34:165–171 A randomised double-blind placebo-controlled trial looked into the neuropsychological effects of short-term elevation of Phe levels in adults with PKU. Nine adults with PKU underwent […]

Neurocognitive diagnostics indicated in cystinosis patients

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This study analyzed neurocognitive functioning of 14 school-aged school-aged cystinosis patients treated with cysteamine. Using standardized methods, full-scale intelligence, visual-motor integration, sustained attention, visual memory, planning, or motor speed seem to be affected. The study concludes that neurocognitive diagnostics are indicated in cystinosis patients.     Neurocognitive functioning in school-aged cystinosis patients.Besouw MT, Hulstijn-Dirkmaat GM, […]

Focal splenic lesions in type I Gaucher and ERT response

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Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy. Stein P, Malhotra A, Haims A, Pastores GM, Mistry PK. J Inherit Metab Dis. 2010 Dec;33(6):769-74. Epub 2010 Aug 4. This study reports that focal splenic lesions (FSL) in Gaucher disease type I (GD1) […]

Sapropterin and stability of blood phenylalanine in PKU

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Variability in blood phenylalanine levels is inversely correlated with IQ and was recently shown to be a better predictor of IQ in early and continuously treated patients with PKU than mean blood phenylalanine levels. This study concludes that sapropterin results in increased stability of blood phenylalanine levels in BH4-responsive PKU. Sapropterin therapy increases stability of blood phenylalanine […]

Adjunct therapy for Pompe disease

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Ashe K.M. et al.  Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease. Molecular Genetics and Metabolism Volume 100, Issue 4, August 2010, Pages 309-315 This study reported that co-administration of the mTORC1 inhibitor rapamycin with Recombinant human GAA (rhGAA) in a GAA knockout mouse reduced muscle glycogen content more […]

New method for Targeted Metabolomics

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Wei R, Li G, Seymour AB. High-Throughput and Multiplexed LC/MS/MRM Method for Targeted Metabolomics. Anal Chem. 2010 Jun 4.   This study describes a “high-throughput, sensitive, and reproducible method for target-based metabolomics studies” which can quantitatively profile hundreds of known metabolites. posted by Yannis Trakadis