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Article
Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease
Fabry disease is a complex, multisystemic and clinically heterogeneous disease with prominent urinary excretion of globotriaosylceramide (Gb3), the principal substrate of the deficient enzyme, α-galactosidase A. ...
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Article
Erratum: Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia
Correction to: Gene Therapy (2006) 13, 1281–1289. doi:10.1038/sj.gt.3302774 Since the above publication, the authors have realised that they did not acknowledge Dr Janice Chou in the Acknowledgments section. T...
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Article
Erratum: Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia
Correction to: Gene Therapy (2006) 13, 1281–1289. doi: 10.1038/sj.gt.3302774 Since the publication of the above issue, the authors have noticed that they have missed the following sentence from the Acknowledge...
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Article
Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia
The deficiency of glucose-6-phosphatase (G6Pase) underlies life-threatening hypoglycemia and growth retardation in glycogen storage disease type Ia (GSD-Ia). An adeno-associated virus (AAV) vector encoding G6P...
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Article
The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005
North Carolina (NC) was the first US state to initiate universal tandem mass spectrometry (MS/MS) newborn screening. This began as a statewide pilot project in 1997 to determine the incidence and feasibility o...
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Article
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening
Summary: Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with two consecutive elevated 3-hydroxyisovalerylcarnitine (C5OH) levels have been eval...
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Article
Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency
The acylcarnitines in plasma and blood spots of 23 patients with proven deficiency of long-chain 3-hydroxyacylcoenzyme A dehydrogenase were reviewed. Long-chain 3-hydroxyacylcarnitines of C14:1, C14, C16 and C18:...
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Article
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders
Mitochondrial fatty acid oxidation disorders cause hypoglycaemia, hepatic dysfunction, myopathy, cardiomyopathy and encephalopathy. Despite their recognition for more than 15 years, diagnosis and treatment rem...
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Article
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents
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Article
3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency
A new acylcarnitine was observed in the plasma and urine of a patient with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Analysis by tandem mass spectrometry of the methyl ester and butyl ester and the...
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Article
Intravenous L-Carnitine and Acetyl-L-Carnitine in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Isovaleric Acidemia
ABSTRACT: The purpose of this study was to determine whether treatment with L-carnitine or acetyl-L-carnitine enhances the turnover of lipid or branched-chain amino acid oxidation in patients with inborn error...
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Article
Acylcarnitines in amniotic fluid: Application to the prenatal diagnosis of propionic acidaemia
Acylcarnitines were assayed in amniotic fluid by isotope dilution tandem mass spectrometry. Control values for propionylcarnitine, C4 and C5 acylcarnitines were established. Propionylcarnitine was elevated by a f...
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Article
Significance of bound glutarate in the diagnosis of glutaric aciduria type I
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Article
Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency
In order to determine which are useful early diagnostic markers for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, we have analysed urine from an asymptomatic neonate. Profiling of urinary organic acid...
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Article
Identification of phenylpropionylcarnitine, a new metabolite of phenylpropionic acid, in a patient with medium chain acyl-coa dehydrogenase deficiency
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Article
Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
A method for analysis of acylcarnitines in blood at physiological concentrations has been developed. Preliminary results from umbilical cord blood and neonatal blood spotted onto Guthrie cards are encouraging....
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Chapter
L-Carnitine Insufficiency in Disorders of Organic acid Metabolism: Response to L-Carnitine by Patients with Methylmalonic Aciduria and 3-Hydroxy-3-methylglutaric Aciduria
Recent publications have indicated the possibility of secondary carnitine deficiency and the need for supplemental L-carnitine in patients with disorders of organic acid metabolism (Roe and Bohun, 1982; Greger...
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Article
Mass Spectrometry of N-Methylated Peptide Derivatives
AN important method of peptide sequence determination, namely mass spectrometry of N-methylated acyl peptides, has been described recently1,2. We devised the same method during studies of gastrin3, and have found...
