Essential and Non-essential Trace Elements in Milks and Plant-Based Drinks.

Although milk and plant-based drinks are widely consumed foodstuffs with high nutritional value, their consumption may also mean intake of non-essential/toxic elements becoming a risk for human health. This study was aimed at determining the concentrations of essential (Ca, Co, K, Mg, Mn, Na, Ni and P) and non-essential/toxic (Hg, Pb, U and V) elements in milks (cow and goat), plant-based drinks (soy, almond, rice and oat) and infant formulas from organic and conventional production systems. Lactose-free, fresh and ultra-high-temperature (UHT) milks were also included. Chemical analyses were performed by means of inductively coupled plasma-mass spectrometry (ICP-MS). The content of the elements hereby assessed did not depend on the production system and the presence of lactose. However, significant differences were found in the concentrations of multiple elements when comparing sterilization methods, source (animal vs. plant-based) and animal species. Non-essential elements were not detected in milks and plant-based drinks, excepting Pb, which was detected in three samples. While the consumption of goat milk is recommended, considering the global intake of essential elements and the absence of non-essential elements, further studies should be conducted to confirm the absence of non-target toxic elements at very low trace levels. On the other hand, the best plant-based drinks are those made up with almonds (intake of Ca) and soy (K and Mg). The current results should be useful to help the population to balance the benefits and risks from milks and plant-based drinks consumption, as well as to adapt their dietary habits.

Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.

Thiamine transporter-2 deficiency is a recessive disease caused by mutations in the SLC19A3 gene. Patients manifest acute episodes of encephalopathy; symmetric lesions in the cortex, basal ganglia, thalami or periaqueductal gray matter, and a dramatic response to biotin or thiamine. We report a 30-day-old patient with mutations in the SLC19A3 gene who presented with acute encephalopathy and increased level of lactate in the blood (8.6 mmol/L) and cerebrospinal fluid (7.12 mmol/L), a high excretion of α-ketoglutarate in the urine, and increased concentrations of the branched-chain amino acids leucine and isoleucine in the plasma. MRI detected bilateral and symmetric cortico-subcortical lesions involving the perirolandic area, bilateral putamina, and medial thalami. Some lesions showed low apparent diffusion coefficient values suggesting an acute evolution; others had high values likely to be subacute or chronic, most likely related to the perinatal period. After treatment with thiamine and biotin, irritability and opisthotonus disappeared, and the patient recovered consciousness. Biochemical disturbances also disappeared within 48 hours. After discontinuing biotin, the patient remained stable for 6 months on thiamine supplementation (20 mg/kg/day). The examination revealed subtle signs of neurologic sequelae, and MRI showed necrotic changes and volume loss in some affected areas. Our observations suggest that patients with thiamine transporter 2 deficiency may be vulnerable to metabolic decompensation during the perinatal period, when energy demands are high. Thiamine defects should be excluded in newborns and infants with lactic acidosis because prognosis largely depends on the time from diagnosis to thiamine supplementation.

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.

The inherited 5-oxoprolinuria is primarily suggestive of genetic defects in two enzymes belonging to the gamma-glutamyl cycle in the glutathione (GSH) metabolism: the glutathione synthetase (GSS) and the 5-oxoprolinase (OPLAH). The GSS deficiency is the best characterized of the inborn errors of GSH metabolism, whereas the OPLAH deficiency is questioned whether it is a disorder or just a biochemical condition with no adverse clinical effects. Recently, the first human OPLAH mutation (p.H870Pfs) was reported in homozygosis in two siblings who suffered from 5-oxoprolinuria with a benign clinical course. We report two unrelated patients who manifested massive excretion of 5-oxoproline in urine. In both probands, the blood GSH levels were normal and no mutations were found in the GSS gene. The mutational screening of the OPLAH gene, which included the codified sequences, the intronic flanking sequences, the promoter sequence, and a genetic analysis in order to detect large deletions and/or duplications, showed that each patient only harbors one missense mutation in heterozygosis. The in silico analyses revealed that each one of these OPLAH mutations, p.S323R and p.V1089I, could alter the proper function of this homodimeric enzyme. In addition, clinical symptoms manifest in these two probands were not related to GSH cycle defects and, therefore, this study provides further evidence that oxoprolinuria may present as epiphenomenon in several pathological conditions and confound the final diagnosis.