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Amino Acid Metabolism, Inborn Errors (15)
Articles on Amino Acid Metabolism, Inborn Errors
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DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria.
Am J Hum Genet 91(6):1082-7 (2012) PMID 23141293
We studied two individuals with 2-aminoadipic and 2-oxoadipic aciduria, a metabolic condition that is still unresolved at the molecular level. This disorder has been associated with varying neurological symptoms. Exome sequencing of a single affected individual revealed compound heterozygosity for a... -
Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.
J Biol Chem 286(20):17777-84 (2011) PMID 21454630
We hypothesized that GA and 3OHGA inhibit the transfer of succinate from astrocytes to neurons, leading to reduced TCA cycle activity and cellular injury. Here, we show that both GA and 3OHGA inhibit the uptake of [(14)C]succinate by Na(+)-coupled dicarboxylate transporters in cultured astrocytic an... -
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
J Hum Genet 55(9):621-6 (2010) PMID 20631720
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[Unusual pulmonary presentation of lysinuric protein intolerance].
Audio, Transactions of the IRE Professiona... 27(7):770-4 (2010) PMID 20863980
A 28-year-old girl suffering from lysinuric protein intolerance was referred on account of severe chronic respiratory failure. Since childhood she had failure to thrive with chronic hyperammonaemia and interstitial lung disease but normal respiratory function. At the age of 21, she experienced haemo... -
Renal imino acid and glycine transport system ontogeny and involvement in developmental iminoglycinuria.
Biochem J 428(3):397-407 (2010) PMID 20377526
Renal maturation occurs post-natally in many species and reabsorption capacity at birth can vary substantially from the mature kidney. However, little is known regarding the maturation of amino acid transport mechanisms, despite the well-known physiological state of developmental imi... -
Glutaric aciduria type 1 in Korea: report of two novel mutations.
J Korean Med Sci 25(6):957-60 (2010) PMID 20514322
We recently diagnosed two cases of GA I confirmed with mutational analysis. Here, we present their rather atypical clinical presentations with genetic characteristics for the first time in Korea. Profound developmental delay from birth, association of hearing loss, and neurological improvement after... -
Abnormal glucose metabolism in aromatic l-amino acid decarboxylase deficiency
Brain Dev 32(6):5 (2010) PMID 19520530
We report sibling cases of aromatic L-amino acid decarboxylase (AADC) deficiency, which is a very rare congenital metabolic disorder. These patients were born to healthy and non-consanguineous parents, and presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation s... -
A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric a...
Hong Kong Med J 16(3):219-22 (2010) PMID 20519759
We report a case in a Hong Kong Chinese neonate who presented with respiratory distress and acute encephalopathy requiring aggressive resuscitation and treatment. Residual gross motor developmental delay was still observed at the age of 16 months. The child was subsequently found to harbour a known... -
Liquid chromatography-tandem mass spectrometry for analysis of acylcarnitines in dried blood specimens collected at autopsy from neonatal in...
Chin Med Sci J 25(2):109-14 (2010) PMID 20598234
Postmortem metabolic test can explain infant deaths and provide estimates of deaths attributable to inborn errors of metabolism in NICU. LC-MS/MS is suitable for analysis of postmortem specimens and can be considered for routine application in NICU autopsy....
