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A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
The classification of 105 PAH mutations may allow the prediction of the biochemical phenotype in >10,000 genotypes, which may be useful for the management of hyperphenylalaninemia in newborns.
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
- A. Schulze, M. Lindner, D. Kohlmüller, Katharina Olgemöller, E. Mayatepek, G. Hoffmann
- 1 June 2003
The screening by MS/MS for up to 23 additional disorders has approximately doubled the detection rate compared with that achieved by the conventional methods used in Germany.
Diagnosis and management of glutaric aciduria type I – revised recommendations
The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline.
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
Findings suggest a fundamental role of the autophagy pathway in the immune system and the anatomical and functional formation of organs such as the brain and heart in individuals with mutant EPG5.
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
Maintenance of optimal PLP levels in the brain may be important in many neurological disorders in which neurotransmitter metabolism is disturbed (either as a primary or as a secondary phenomenon).
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency
It is demonstrated that timely diagnosis in neurologically asymptomatic patients followed by treatment with l-carnitine and a lysine-restricted diet was the best predictor of good outcome, whereas treatment efficacy was low in patients diagnosed after the onset of neurologic disease.
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
To recapitulate all available evidence on clinical phenotypes and rational diagnostic and therapeutic approaches for this devastating, but treatable, neurometabolic disorder, 36 patients with tyrosine hydroxylase deficiency were studied and the literature was reviewed.
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
Increased levels of immunoglobulin D and, in most patients of immunglobulin A, in combination with enhanced excretion of mevalonic acid provide strong evidence for HIDS, and genetic counseling should be offered to families at risk.
Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity*
It is reported that MMA induces neuronal damage in cultures of embryonic rat striatal cells at a concentration range encountered in affected patients, and the involvement of secondary excitotoxic mechanisms in MMA-induced cell damage is suggested.