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This article discusses the long-term outcomes of individuals with long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, which are disorders included in newborn screening programs. The study found that while neonatal screening and early treatment improved survival rates, they did not reliably prevent long-term complications such as metabolic decompensations, cardiomyopathy, myopathy, hepatopathy, retinopathy, and neuropathy. Hospitalization rates were also high. The authors emphasize the need for better therapeutic strategies and disease-altering treatments for individuals with LCHAD/MTP deficiency. [Extracted from the article]

This article discusses the use of magnetic resonance neurography (MRN) in children and adolescents with metabolic neuropathies. The study focused on patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and mitochondrial trifunctional protein deficiency (MTPD). The results showed that MRN was able to detect nerve lesions and functional nerve changes in these patients, indicating its potential as a valuable tool for detecting and monitoring peripheral neuropathy in this population. The findings suggest that MRN could be used as a non-invasive method for diagnosing and assessing neuropathies in children and adolescents. [Extracted from the article]

OBJECTIVE: To investigate micronutrient supply in phenylketonuria (PKU) patients on a relaxed diet. SUBJECTS/METHODS: Sixty-seven patients (6-45 years) with a phenylalanine tolerance ≥600 mg/day were included in the study. From a 3-day diet record, protein supply as well as consumption of essential amino acids and several micronutrients were assessed and compared with the current recommendations and data for the healthy population. RESULTS: Protein supply and consumption of all essential amino acids were sufficient in all patients. Supply of micronutrients depended on dietary regime. Patients with a total protein supply of 120% or more of the recommended amount and at least 0.5 g protein per kg body weight from amino-acid mixture (AAM) were sufficiently supplied with all investigated micronutrients. All patients without AAM supplement showed severe micronutrient deficiencies in their diet records. CONCLUSION: PKU patients under a relaxed diet are at risk of an insufficient nutrient supply, if they have first no substitution with AAM, second a protein supply less than 0.5 g per kg body weight from AAM or third a total protein supply less than 120% of the recommendations. Therefore, close monitoring, specific dietary counseling and potential supplementation is mandatory to prevent micronutrient deficiencies in PKU patients. European Journal of Clinical Nutrition (2014) 68, 119-124; doi: 10.1038/ejcn.2013.218; published online 20 November 2013 Keywords: Phenylketonuria; relaxed diet; micronutrient deficiencies; micronutrients, INTRODUCTION Phenylketonuria (PKU;OMIN 261600) is one of the most common inborn metabolic disorders, with an incidence varying between 1:3000 and 1:30000 across Europe. (1) It is caused by a deficient [...]

The standard treatment protocol for acute lymphoblastic leukemia (ALL) and non-Hodgkin lymphoma (NHL) in childhood includes intravenous therapy with asparaginase (Asp), which may cause hyperammonemia. In this study, all patients receiving asparaginase therapy at the Hospital for Children and Adolescents of the University of Leipzig between January 2002 and December 2007 were reviewed for the occurrence of hyperammonemia. Fifty-four patients were identified (22 girls, 32 boys; mean age 5.8 years). Blood ammonia concentrations were determined in 4 patients due to suspicious clinical signs. All showed hyperammonemia with NH3 concentrations between 260 and 700 μmol/L. They received specific acute detoxification therapy consisting in protein restriction, administration of benzoic acid, glucose/insulin. All 4 recovered completely. All patients receiving therapeutic regimes that include asparaginase (Asp) should be monitored for the development of transient hyperammonemia. [ABSTRACT FROM AUTHOR]

BACKGROUND: Inner-city, black women are among those groups that are at higher risk for having infants with fetal alcohol spectrum disorders that can include life-long neurobehavioral and cognitive impairments. Chronic alcohol consumption can decrease amounts of docosahexaenoic acid (DHA), a fatty acid that is essential for optimal infant neural and retinal development in a variety of tissues. METHODS: Black women who presented at an inner-city antenatal clinic for their first prenatal visit were recruited into a longitudinal, observational study. Alcohol intake was determined by a structured interview. Participants provided blood specimens and completed food frequency surveys at 24 weeks of gestation, infant delivery, and 3 months postpartum. Fatty acid composition analyses were completed on 307, 260, and 243 for plasma and 278, 261, and 242 erythrocyte specimens at 24 weeks of gestation, delivery, and 3 months postpartum, respectively. RESULTS: Proportion of drinking days at the first prenatal visit was associated with decreased DHA in plasma and erythrocytes throughout the study. This association was the strongest at 24 weeks of gestation. In addition, an interaction between proportion of drinking days at the time of conception and ounces of absolute alcohol per drinking day at the time of conception was detected and demonstrated that, in daily drinkers, high intakes of alcohol are associated with decreased DHA and arachidonic acid (AA) concentrations in plasma. CONCLUSIONS: Frequent and high intakes of alcohol that have been previously associated with fetal alcohol spectrum disorders are also associated with decreased maternal DHA and AA plasma concentrations. The present findings indicate that maternal DHA deficiency is associated with high-risk drinking and may contribute to the mechanism(s) of alcohol-related neurodevelopmental disorders. [ABSTRACT FROM AUTHOR]