Search

We present the results of our experience in the diagnosis and follow up of the positive cases for propionic, methylmalonic acidemias and cobalamin deficiencies (PA/MMA/MMAHC) since the Expanded Newborn Screening was implemented in Madrid Region. Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines were quantitated by 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 2011–2020, 588,793 children were screened, being 953 of them were referred to clinical units for abnormal result (192 for elevated C3 levels). Among them, 88 were false positive cases, 85 maternal vitamin B12 deficiencies and 19 were confirmed to suffer an IEM (8 PA, 4 MMA, 7 MMAHC). Ten out 19 cases displayed symptoms before the NBS results (6 PA, 1 MMA, 3 MMAHC). C3, C16:1OH+C17 levels and C3/C2 and C3/Met ratios were higher in newborns with PA/MMA/MMAHC. Cases diagnosed with B12 deficiency had mean B12 levels of 187.6 ± 76.9 pg/mL and their mothers 213.7 ± 95.0; 5% of the mothers were vegetarian or had poor eating while 15% were diagnosed of pernicious anemia. Newborns and their mothers received treatment with B12 with different posology, normalizing their levels and the secondary alterations disappeared. Elevated C3 are a frequent cause for abnormal result in newborn screening with a high rate of false positive cases. Presymptomatic diagnosis of most of PA and some MMA/MMAHC is difficult. Vitamin B12 deficiency secondary to maternal deprivation is frequent with an heterogenous clinical and biochemical spectrum. [ABSTRACT FROM AUTHOR]

Purpose: Ketogenic dietary therapies (KDT) are high-fat and low-carbohydrate diets that may achieve seizure control and improve cognitive state. We describe our KDT experience in infants (children less than two years of age).Research Methods& Procedures: We conducted a retrospective, descriptive and observational study of 42 infants treated with KDT between 2000-2018.Results: The types of KDT started were: classic ketogenic diet ratio 3:1 (40), ratio 4:1 (1) and modified ketogenic diet with medium-chain triglycerides (1). Four patients switched to a modified Atkins diet. During follow-up, 79%, 57%, 38% and 17% of infants remained on KDT at 3, 6, 12 and 24 months, respectively. Seizure reduction ≥50% compared to baseline was achieved in 50%, 45%, 38% and 17% at 3, 6, 12 and 24 months, respectively. Seizure control was excellent (reduction >90%) in 33%, 31%, 26% and 12%, and seizure-free infants were 9, 9, 10 and 4, at different follow-up intervals, respectively. Sixty-three percent of infants with West syndrome were responders to KDT. Mean length of KDT was 390 days (16 days-4.9 years). Ineffectiveness was the reason for withdrawal in 50% of patients. Early adverse effects (during first month) occurred in 40% of infants. The most frequent early side effects were asymptomatic hypoglycemia and gastrointestinal disturbances. Late-onset side effects occurred in 55-14% of infants during therapy, and most frequent were hypercalciuria and dyslipidaemia.Conclusion: KDT are useful and effective treatments in infancy. Side effects are frequent but mild and easy to manage. [ABSTRACT FROM AUTHOR]

Background: Short stature has been reported in congenital ichthyoses (CI), but few data exist on patients' nutritional status.Objective: To describe the nutritional status at the first evaluation of children and young adults with CI.Methods: Prospective observational study of patients assessed at a multidisciplinary clinic. Clinical variables and ichthyosis severity were collected. Anthropometric assessment was made by measuring weight and height, and nutritional status was classified based on the World Health Organization definitions for malnutrition. Analytical assessment included markers of nutritional status, fat-soluble vitamins, and micronutrients.Results: We included 50 patients with a median age of 5 years (IQR, 1.6-10.3). Undernutrition was found in 32% of patients, and 75% of the undernourished children presented growth impairment. Younger children and those with severe ichthyoses were the most affected. Micronutrient deficiencies were found in 60% of patients. Deficiencies of selenium (34%), iron (28%), vitamin D (22%), and zinc (4%) were the most frequent findings.Limitations: Our small sample includes a heterogeneous group of ichthyoses.Conclusion: Children with CI appear to be at risk of undernutrition, especially at younger ages. Nutritional deficiencies are common and should be monitored. Growth failure in children with ichthyosis could be caused by undernutrition and aggravated by nutritional deficiencies. [ABSTRACT FROM AUTHOR]