Posts Categorized: Part 08: AMINO ACIDS

Antioxidants in tyrosinemia type 1

Posted by & filed under Part 08: AMINO ACIDS, Treatment.

Chantale Langlois, Rossana Jorquera, Diana Orejuela, Anne Bergeron, Milton J. Finegold, William J. Rhead and Robert M. Tanguay, Rescue from neonatal death in the murine model of hereditary tyrosinemia by glutathione monoethylester and vitamin C treatment, Molecular Genetics and MetabolismIn Press, Corrected Proof, , Available online 26 November 2007. ( In this article, the authors […]

Noninvasive phenylalanine measurement for PKU

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This study by Salt Lake City investigators looks at a new noninvasive method to measure phenylalanine, by skin iontophoretic extraction.   J Inherit Metab Dis. 2007 Oct 5; [Epub ahead of print] Noninvasive measurement of phenylalanine by iontophoretic extraction in patients with phenylketonuria. Longo N, Li SK, Yan G, Kochambilli RP, Papangkorn K, Berglund D, […]

Use of N-carbamylglutamate

Posted by & filed under Part 08: AMINO ACIDS, Treatment.

  A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset A. Nordenström, M. Halldin, B. Hallberg & J. Alm Journal of Inherited Metabolic Disease The patient described in this paper has N-Acetylglutamate synthase deficiency. However, he did not initially respond to N-carbamylglutamate. Therefore, the authors recommend that conventional hyperammonemia […]

Nonsense-mediated decay of RNA occurs frequently in carbamyl phosphate synthetase I deficiency.

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  In this study using cells from 26 patients with CPSI deficiency, 21/52 alleles have proven to be infrequently found in the cDNA, suggesting RNA instability. In liver tissue from two patients, Northern blot proved CPSI-specific RNA degradation. Mol Genet Metab. 2006 Sep-Oct;89(1-2):80-6. Epub 2006 Jun 5. The frequent observation of evidence for nonsense-mediated decay […]

Liver transplantation for inborn errors of metabolism

Posted by & filed under Part 02: PERSPECTIVES, Part 03: GENERAL THEMES, Part 08: AMINO ACIDS, Part 09: ORGANIC ACIDS.

This articles provides an overview and discussion on an important area of the treatment of inborn errors of metabolism. Transplantation. 2005 Sep 27;80(1 Suppl):S135-7. Liver transplantation for inborn errors of metabolism. Meyburg J, Hoffmann GF.   Thank you very much in advance for your contributions to this blog (Click on login to register and post […]

Pyridoxine dependent epilepsy

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Pyridoxine dependent epilepsy (PDE) was first described by Hunt in 1954. In 1969, Dr Scriver suggested that PDE was caused by reduced binding of pyridoxal phosphate to glutamate decarboxylase leading to buildup of excitotoxic glutamate and deficiency of inhibitory GABA in the brain.   In 2005, a group identified the gene ALDH7A1 encoding antiquitin (P6C-alpha-AASA […]

Hepatocyte transplantation for argininosuccinate lyase deficiency

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Sustained engraftment and tissue enzyme activity after liver cell transplantation for argininosuccinate lyase deficiency. Stephenne X, Najimi M, Sibille C, Nassogne MC, Smets F, Sokal EM. Gastroenterology. 2006 Apr;130(4):1317-23. Hepatocyte transplantation is a promising therapeutic option for various inborn errors of metabolism, as is exemplified by this case report. For more information on urea cycle […]