Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
Urea Cycle DisordersInborn4 moreHyperammonemia, which can cause brain damage, occurs in many different kinds of inborn errors of metabolism. The investigators propose to determine if short-term (3 day) treatment with N-carbamylglutamate can diminish hyperammonemia by enhancing ureagenesis in these patients. The investigators propose here a short-term (3 day) trial. If it succeeds, the investigators would consider more extensive long-term studies of the drug.
Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases
Lysosomal Storage DiseasesInborn Errors of MetabolismThe purpose of this study is to determine if it is safe to administer unrelated umbilical cord blood to pregnant women in their first trimester of pregnancy with a fetus that has a known diagnosis of certain lysosomal storage diseases. These diseases are known to cause severe and irreversible neurological disability in early infancy and which are lethal in childhood.
GoalKeeper: Intelligent Information Sharing for Children With Medical Complexity
Childhood CancerCerebral Palsy4 moreThis proposal addresses the major challenge of improving health outcomes for children with cancer and other complex conditions, for whom the effectiveness of outpatient care depends on care coordination across a diverse group of caregivers that includes parents, community support organizations and pediatric care providers. The investigators have developed GoalKeeper, a prototype system for supporting care coordination across multiple care providers. The primary aim of the clinical trial is to assess the potential for this new system, GoalKeeper, to improve meaningful use of goal-centered care plans in the care of children with cancer and other complex chronic conditions.
Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance
Hereditary Fructose IntoleranceFructose Metabolism2 moreBackground: High fructose intake increases blood lactate, triglyceride and uric acid concentrations. Uric acid may contribute to insulin resistance and dyslipidemia in the general population. In patients with hereditary fructose intolerance fructose consumption is associated with acute hypoglycemia, renal tubular acidosis, and hyperuricemia. Objective: We investigated whether asymptomatic carriers for hereditary fructose intolerance (HFI) would have a higher sensitivity to adverse effects of fructose than the general population. Design: Eight subjects heterozygous for HFI (hHFI; 4 males, 4 females) and eight controls received for 7 days a low fructose diet and on the eighth day ingested a test meal calculated to provide 25% of basal energy requirement containing labeled fructose (13C fructose 0.35 g/kg), protein (0.21 g/kg) and lipid (0.22 g/kg). Total fructose oxidation, total endogenous glucose production (by 6,6-2H2-glucose dilution), carbohydrate and lipid oxidation, lipids, uric acid, lactate, creatinine, urea and amino acids were monitored for 6 hours.
Bezafibrate Trial in CPT2 Deficiency
Carnitine Palmitoyl Transferase 2 DeficiencyThe purpose of this study is to determine whether bezafibrate is effective in the treatment of the muscular adult form of carnitine palmitoyltransferase 2 deficiency
Anti-oxLDL IgM Antibodies as a Novel Therapy for Metabolic Lipid Diseases
Lipid MetabolismInborn ErrorsTo test whether active pneumococci immunization can alleviate inflammation and improve cholesterol metabolism in lysosomal lipid storage diseases and associated metabolic disorders.
N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia
Inborn Errors of MetabolismThis study is based on the hypothesis that a new drug N-carbamylglutamate (Carbaglu®) will enhance the ability of the liver to dispose of toxic ammonia which accumulates in several metabolic diseases including urea cycle disorders and organic acid disorders.
The Antibiotic Rifampin to Reduce High Levels of Blood and Urine Calcium in IIH
Idiopathic Infantile Hypercalcemia - Mild FormIdiopathic infantile hypercalcemia(IIH) is a rare,genetic disorder of mineral metabolism. Biallelic loss of functions mutations of CYP24A1, the gene encoding the 24-hydroxylase enzyme that represents the principal pathway for inactivation of vitamin D metabolites, cause the most common and severe form of IIH.Investigators have preliminary data supporting a novel therapeutic approach to suggest rifampin as an investigational drug to induce over-expression of CYP3A4, an important enzyme that provides an alternate catabolic pathway for inactivation of vitamin D metabolites. In this study, investigators will recruit 5 patients with biallelic inactivating mutations of CYP24A1. Participants will be followed prospectively for a total 6-11 months. This will include 2 months of observation, 2 months of receiving the starting dose of rifampin, followed by 2 month washout phase. Efficacy of the starting dose of rifampin will be determined prior to proceeding only in non responders to the escalation dose of rifampin 10mg/kg/day.
Pharmacogenetic Factors and Side Effects of Metoclopramide and Diphenhydramine
Drug MetabolismPoor1 morePharmacokinetic of Metoclopramide (MCP) in correlation to polymorphisms of CYP2D6 and Dopamine-D2-Receptor. Pharmacokinetic of Diphenhydramine (DPH) in correlation to polymorphisms of CYP2D6
Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
Amino Acid MetabolismInborn ErrorsRATIONALE: The urea cycle is the process in which nitrogen is removed from the blood and converted into urea, a waste product found in urine . Urea cycle disorders are inherited disorders caused by the lack of an enzyme that removes ammonia from the bloodstream. Gene therapy is treatment given to change a gene so that it functions normally. Studying the treatment and metabolism of patients with urea cycle disorders may be helpful in developing new treatments for these disorders. PURPOSE: Two-part clinical trial to study the treatment and metabolism of patients who have urea cycle disorders.