Nicola Longo, Cristina Amat Di San Filippo, Marzia Pasquali
Carnitine plays an essential role in the transfer of long-chain fatty acids across the inner mitochondrial membrane. This transfer requires enzymes and transporters that accumulate carnitine within the cell (OCTN2 carnitine transporter), conjugate it with long chain fatty acids (carnitine palmitoyl ...
Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben‐Zeev, David Chitayat et al.
We analyzed four families that presented with a similar condition characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. We show that recessive mutations in the ASNS gene are responsible for this syndrome. Two of the identified miss...
Gary L. Hedlund, Nicola Longo, Marzia Pasquali
Glutaric acidemias comprise different disorders resulting in an increased urinary excretion of glutaric acid. Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the a...
Charles H. Rodeck, Marcus Pembrey, A. D. Patrick, C Tzannatos et al.
Afshan N. Malik, Rojeen Shahni, Muhammad Usman Iqbal
We report that mitochondrial DNA (MtDNA) copy numbers are increased in peripheral blood of patients with diabetic nephropathy (DN). Using qPCR for quantitation, we found a 2-4-fold significant increase (p<0.05) in the mean MtDNA values in DN patients vs. healthy controls and diabetics without nephro...
Zhendong Zhu, Rongnan Li, Chengwen Feng, Ruifang Liu et al.
It takes several hours for mammalian sperm to migrate from the ejaculation or insemination site to the fertilization site in the female reproductive tract in which glucose, amino acids, and fatty acids are regarded as the primary substrates for ATP generation. The present study was designed to inves...
Urh Grošelj, Mojca Žerjav Tanšek, Andraž Šmon, Natalija Angelkova et al.
The aim of our study was to assess the current state of newborn screening (NBS) in the region of southeastern Europe, as an example of a developing region, focusing also on future plans. Responses were obtained from 11 countries. Phenylketonuria screening was not introduced in four of 11 countries, ...
Jan Smeıtınk, F. A. Beemer, Marc Espeel, R. A. M. G. Donckerwocke et al.
Mojca Žerjav Tanšek, Urh Grošelj, Natalija Angelkova, D Anton et al.
BACKGROUND: We aimed to assess the current state of PKU screening and management in the region of southeastern Europe. METHODS: A survey was performed involving all identified professionals responsible for the PKU management in the 11 countries from South-Eastern region of Europe (Albania, Bulgaria,...
Catherine Peters, Ivan Brooke, Simon Heales, Adeboye Ifederu et al.
CONTEXT: There is variability in the congenital hypothyroidism (CH) newborn screening TSH cutoff across the United Kingdom. OBJECTIVE: To determine the influences of year, gender, and ethnicity on screening variability and examine whether there is an optimal operational TSH cutoff. DESIGN AND SETTIN...
N. A. J. Carson, I. J. Carré
Homocystinuria is the result of an inborn error in the metabolism of the essential sulphur-containing amino acid, methionine (Carson and Neill, 1962; Gerritsen, Vaughn, and Waisman, 1962). There is now good evidence This results in an accumulation of homo- cysteine in the blood, and as this is a 'no...
Marzia Pasquali, Gavin Monsen, Leah D’Aurora Richardson, Martha Alston et al.
The application of tandem mass spectrometry (MS/MS) to newborn screening has led to the detection of patients with a wider spectrum of inborn errors of metabolism. A definitive diagnosis can often be established early enough to start treatment before symptoms appear. Here, we review common biochemic...
D. J. Carson, L. G. Greeves, L Sweeney, Michael Crone
Trabecular bone mineral content was assessed by quantitative computed tomography in eleven young adults with phenylketonuria who had been treated from early childhood with a diet restricted in natural protein and supplemented with amino acids, minerals and vitamins. There was a significant reduction...
Suprovath Kumar Sarker, Md Tarikul Islam, Aparna Biswas, Golam Sarower Bhuyan et al.
Liquid Chromatography tandem mass spectrometry (LC-MS/MS) is used for the diagnosis of more than 30 inborn errors of metabolisms (IEMs). Accurate and reliable diagnosis of IEMs by quantifying amino acids (AAs) and acylcarnitines (ACs) using LC-MS/MS systems depend on the establishment of age-specifi...
Solomon Maximo Greenberg, Alfonso Massimiliano Ferrara, Everton S. Nicholas, Alexandra M. Dumitrescu et al.
BACKGROUND: Familial dysalbuminemic hyperthyroxinemia (FDH) is a common cause of euthyroid hyperthyroxinemia. Clinical recognition of FDH is crucial for preventing unnecessary therapy in clinically euthyroid patients with abnormal thyroid function tests. Our goal was to identify the cause of abnorma...