We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines were quantitated by mass spectrometry (MS)/MS. Newborns with alterations were referred to the clinical centers for follow-up.Biochemical and molecular genetic studies for confirmation of a disease were performed. In the period 2011 to 2019, 592 822 children were screened: 902 of them were referred for abnormal results. An IEM was confirmed in 222 (1/2670): aminoacidopathies: 89 hyperphenylalaninemia (HPA) (51 benign HPA, 32 phenylketonuria, 4 DNAJC12 defect, and 2 primapterinuria), 6 hypermethioninemia, 3 tyrosinemia type 1 (TYR-1), 1 TYR-3, 4 maple syrup urine disease (MSUD), 2 branched-chain amino acid transferase 2 deficiency, 2 homocystinuria, 1 cystinuria, 2 ornithine transcarbamylase (OTC) deficiency, 2 citrullinemia type I (CTLN1); FAO defects: 43 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 13 very long-chain acyl-CoA dehydrogenase deficiency, 2 long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), 1 multiple acyl-coA dehydrogenation deficiency, 11 systemic primary carnitine deficiency, 2 carnitine palmitoyltransferase type 2 (CPT-II) deficiency, 1 CPT-I deficiency; organic acidurias: 12 glutaric aciduria type 1 (GA-1), 4 methylmalonic acidemia (MMA), 7 MMA including combined cases with homocystinuria (MMAHC), 6 propionic acidemia (PA), 7 3-methylcrotonyl-CoA carboxylase, 1 3-hydroxy-3-methylglutaryl-CoA lyase deficiency lyase deficiency. Only 19 infants (8.5%) were symptomatic at
Vitamin D intoxication is a well-known cause of hypercalcemia in children and can have serious consequences (renal, cardiac and neurologic mainly). The use of the so-called over-the-counter (OTC) supplements involves a high risk in this taking place. The clinical expression of hypercalcaemia is unspecific, and, together with the fact that the administration of such supplements is frequently denied, the diagnosis of vitamin D intoxication is often delayed and the number of complementary tests performed is high. We here-for expose a series of 3 cases all of which are infants born from Latin-American immigrants who were receiving supplements that came from their parents originary countries. All 3 cases were admitted in our hospital within a period of 5 months. After the first preceding case, the diagnosis of the 2 latter ones was performed promptly and so was the instauration of the treatment for hypercalcemia. The initial levels of serum calcium and of 25-hydroxy vitamin D where, respectively for each case: 17.9 mg/dl and 504 ng/ml; 14.46 mg/dl and 505 ng/ml; 14.2mg/dl and 530 ng/ml. All 3 patients received intravenous treatment with serum, furosemide and corticoids and in one case with subcutaneous calcitonine as well. The clinical outcome was optimal for them all, with normalization of the calcium levels and of the renal function.
Hyperammonemic encephalopathy is a rare but potentially dangerous complication of the antiepileptic drug (AED) sodium valproate (VPA). We report a retrospective study of 25 pediatric patients, (15 females [60%]; age: 7.6 ± 4.9 years), with different underlying disorders, who suffered from hyperammonemia due to VPA and who were treated with carglumic acid (CA). The duration of treatment with VPA was 15 ± 1 month, with a dose of 40 ± 16.6 mg/kg/d. VPA blood levels were 75.5 ± 60 mg/L with seven patients being overdosed (>100 mg/L). Twenty‐three patients received concomitant treatment with other AEDs. The initial dose of CA was 100 mg/kg. Subsequently, CA doses of 25 mg/kg were given to 22 patients every 6 hours (average treatment length 2.17 ± 1.1 days) until ammonemia was normalized. In nine patients, CA was used in combination with other drugs to treat hyperammonemia. In all cases, blood ammonia levels were brought under control and symptoms of hyperammonemia resolved. Two hours after CA administration, the average reduction in ammonium levels was 53 ± 29 and 88.6 ± 47.5 μmol/L at 24 hours, resulting in a statistically significant decrease when compared to pretreatment levels. There were no statistically significant differences between sexes, in the presence or not of cognitive impairment or previous carnitine treatment. There were no statistically significant differences when comparing treatment with CA plus ammonia scavengers vs CA alone. In 17 patients (68%) VPA was discontinued and 62% of the patients who maintained treatment had recurrent episodes of hyperammonemia.
Background To determine the nutritional status in patients with inflammatory bowel disease (IBD) and its possible relationship with the activity of the disease. Methods A cross-sectional and descriptive study of paediatric patients with previously diagnosed or suspected IBD who underwent upper endoscopy (EGD) and colonoscopy, blood tests, stool analysis and MR Enterography (MRE), from October 2018 to February 2020. Results We recruited 21 patients and 12 of them were males (57%). A total of 12 patients had Crohn ́s disease (CD) (57%), 3 had ulcerative colitis (UC) (14%), 6 had IBD unclassified (IBDu) (28%). The age at the time of the evaluation was 14.2 ± 0.7 years and the progression time of the disease was 3.9 ± 0.6 years. A total of 16 patients showed clinical remission (76%), and 6 of them (28%) also had endoscopic and histological remission. Eight patients were receiving biological treatment (38%). Rotavirus, adenovirus, Clostridium difficile toxin analysis and stool culture were performed in 14 patients, all of them were negative. The weight was 55.7 ± 20.71 kg, the size was 159.1 ± 15.0 cm and the BMI was 21.5 ± 5.6. A total of 7 patients (58%) had malnutrition, 3 (14%) were overweight and 2 (10%) were obese. We found no significant differences in BMI according to the underlying diagnose. The results of the blood analysis with nutritional profile were: folic acid 12.3 ± 7.2 ng/ml, vitamin B12 455.2 ± 200.6 pg/ml, ferritin 36.9 ± 16.7 ng/ml, total protein 7.6 ± 0.5 g/dl, albumin 4.4 ± 0.4, prealbumin 22.7 ± 7.0 mg/dl, retinol binding protein 2.2 ± 1.0 mg/dl, vitamin A 0.3 ± 0.1 mg/L, effective vitamin E 4.6 ± 0.7 mg/g, 25(OH) vitamin D 20.1 ± 6.2 ng/ml, vitamin B1 6.1 ± 1.2 mcg/dL, vitamin B6 28.3 ± 9.8 ug/L, IFG-1 312.1 ± 124.1 ng/ml, IGFBP-3 4.4 ± 0.6 μg/ml, PTH 54.9 ± 2.7, Selenium 88.7 ± 23.1, Zinc 99.4 ± 9.3, copper 96.0 ± 11.5 ug/dL. We found a significant negative correlation between the IGF-1 levels and the SES-CD values, and between prealbumin levels and Mayo score values (p < 0.05). However, no significant correlations were found between other nutritional values and endoscopic scores. We found a significant negative correlation between the BMI values and the shPCDAI (p < 0.05), but no significant correlation was found with PUCAI. No differences in analytical markers or BMI were found between patients receiving biological treatment and those who were not. Conclusion More than half of the teenager patients with IBD showed some kind of nutritional disturbance. The analytical nutritional markers which related more closely to the endoscopic activity were IGF-1 and prealbumin. The alteration of the clinical score was related to alterations in the BMI in CD but not in the UC patients.
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