Potential protective role of endogenous glutamate-oxaloacetate transaminase against glutamate excitotoxicity in fetal hypoxic-ischaemic asphyxia.

Aim: Fetal blood contains higher concentrations of glutamate-oxaloacetate transaminase (GOT; a blood enzyme able to metabolize glutamate) than maternal blood. The aim of this study was to determine the relationship between GOT and glutamate levels in arterial blood samples from umbilical cord in control newborn infants and newborn infants with hypoxic-ischaemic insult and/or symptoms of hypoxia-ischemia after delivery.

Method: A total of 46 newborn infants (28 females, 18 males) were prospectively included in the study.

Evaluation of carnitine deficit in very low birth weight preterm newborns small for their gestational age.

Objective: To verify whether small-for-gestational-age (SGA) preterm newborns represent a special risk group for carnitine deficiency. Secondary outcome includes assessment of longitudinal differences of total carnitine (TC), free carnitine (FC) and acylcarnitines between SGA and appropriate-for-gestational-age (AGA).

Methods: A retrospective study to evaluate carnitine and acylcarnitines profile on 144 very-low-birth weight newborns (VLBW), classified as AGA (n = 73) and SGA (n = 71), was performed by tandem mass spectrometry, during their first 5 weeks of life.

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Background: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families. Many factors make LSD diagnosis difficult, including phenotype and penetrance variability, shared signs and symptoms, and problems inherent to biochemical diagnosis. Developing a powerful diagnostic tool could mitigate the protracted diagnostic process for these families, lead to better outcomes for current and proposed therapies, and provide the basis for more appropriate genetic counseling.

[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].

Background And Objective: To evaluate clinical, biochemical and genetic findings of two series of patients with biotinidase deficiency.

Patients And Method: Fifteen cases detected through newborn screening and six through selective screening for hearing loss or metabolic disease.

Results: No patient detected by neonatal screening had symptoms and only one case with partial biotinidase activity developed myoclonic seizures that resolved with biotin.

Electrothermal atomic absorption spectrometry determination of aluminium in parenteral nutrition and its components.

Aluminium concentration in samples of total parenteral nutrition solutions and samples of their individual components were analysed to know the exposure to this element. The median aluminium content obtained for the total parenteral nutrition solutions was 105.7 microg/L; for their individual components, 10% calcium gluconate and 1M monopotasic phosphate were the most contaminated, as well as the 1M sodium bicarbonate.