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Long-term follow-up of 114 patients with congenital hyperinsulinism.
The high degree of developmental delay, in particular in infancy-onset patients, emphasizes the need for a change in treatment strategies to improve the unfavorable outcome and Evaluation of treatment alternatives should take the high risk of developing diabetes mellitus into account.
Disorders of Branched-Chain Amino Acid Metabolism
The three essential and chemically similar branched-chain amino acids L-leucine, L-valine, and L-isoleucine are unique amongst the amino acids in that they undergo oxidation to a greater extent in
Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria.
Betaine plasma concentrations change rapidly after ingestion and elimination kinetics in homocystinuric patients appeared to be accelerated, and elimination half-life increased during continuous dosing over 5 days.
Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *
Optimal outcome is achieved especially for the large subgroup of patients with medium-chain acyl-CoA dehydrogenase deficiency and physical and cognitive outcome in patients with presymptomatic diagnosis of metabolic disorders included in the current German screening panel is equally good as in phenylketonuria.
Clinical and neurocognitive outcome in symptomatic isovaleric acidemia
Within the group of "classical" organic acidurias, IVA appears to be exceptional considering its milder neuropathologic implications, and the potential to avoid neonatal mortality and to improve neurologic and cognitive outcome under early treatment reinforces IVA to be qualified for newborn screening.
Homocysteine‐betaine interactions in a murine model of 5,10‐methylenetetrahydrofolate reductase deficiency
In humans with cardiovascular disease, a significant negative correlation between plasma betaine and homocysteine concentrations is found and the results emphasize the strong interrelationship between homocy steine, folate, and choline metabolism.
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop
In this cohort of patients, the treatment regimen was adapted to the severity of the underlying enzyme defect and thus differed among the group of long-chain FAO defects.
Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria
Sapropterin is effective in reducing plasma Phe concentrations in a dose‐dependent manner and is well tolerated at doses of 5–20 mg/kg/day over 22 weeks in BH4‐responsive patients with PKU.
Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia
In the absence of any demonstrable effect, dietary treatment is unlikely to be of value in patients with mild hyperphenylalaninemia and serum Phe levels <600 μM on a free nutrition, and should no longer be recommended.
A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival
It is shown that clinical symptoms in patients with mutations in the HSD17B10 gene are unrelated to accumulation of toxic metabolites in the isoleucine pathway and, rather, related to defects in general mitochondrial function.