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Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography-mass spectrometry.
Podebrad F, Heil M, Beck T, Mosandl A, Sewell AC, Böhles H. Podebrad F, et al. Clin Chim Acta. 2000 Feb 25;292(1-2):93-105. doi: 10.1016/s0009-8981(99)00210-7. Clin Chim Acta. 2000. PMID: 10686279
The chiral metabolites 3-hydroxyisobutyric acid (HIBA) and 3-aminoisobutyric acid (AIBA) are intermediates in the pathways of L-valine and thymine and play an important role in the diagnosis of the very rare inherited metabolic diseases 3-hydroxyisobutyric acidur …
The chiral metabolites 3-hydroxyisobutyric acid (HIBA) and 3-aminoisobutyric acid (AIBA) are intermediates in the pathways of L-valine and t …
Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria.
Chitayat D, Meagher-Villemure K, Mamer OA, O'Gorman A, Hoar DI, Silver K, Scriver CR. Chitayat D, et al. J Pediatr. 1992 Jul;121(1):86-9. doi: 10.1016/s0022-3476(05)82549-1. J Pediatr. 1992. PMID: 1625099
The level of 3-hydroxyisobutyrate in stored samples of midtrimester amniotic fluid was found to be high. The association of 3-hydroxyisobutyric aciduria with brain dysgenesis is a newly recognized mendelian disorder; its recurrence in a family at risk is pote …
The level of 3-hydroxyisobutyrate in stored samples of midtrimester amniotic fluid was found to be high. The association of 3-hydr …
A severely brain-damaged case of 3-hydroxyisobutyric aciduria.
Sasaki M, Iwata H, Sugai K, Fukumizu M, Kimura M, Yamaguchi S. Sasaki M, et al. Brain Dev. 2001 Jul;23(4):243-5. doi: 10.1016/s0387-7604(01)00196-6. Brain Dev. 2001. PMID: 11377004 Review.
We report a male case of 3-hydroxyisobutyric aciduria (3HiB-uria) with severe brain damage. ...
We report a male case of 3-hydroxyisobutyric aciduria (3HiB-uria) with severe brain damage. ...
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.
Sass JO, Walter M, Shield JP, Atherton AM, Garg U, Scott D, Woods CG, Smith LD. Sass JO, et al. J Inherit Metab Dis. 2012 May;35(3):437-42. doi: 10.1007/s10545-011-9381-x. Epub 2011 Aug 24. J Inherit Metab Dis. 2012. PMID: 21863277
3-hydroxyisobutyric aciduria is an organic aciduria with a poorly understood biochemical basis. ...Both mutations affect highly evolutionarily conserved amino acids of the methylmalonate semialdehyde dehydrogenase protein. Mutation analysis in the ALDH6A1 gen …
3-hydroxyisobutyric aciduria is an organic aciduria with a poorly understood biochemical basis. ...Both mutations affec …
3-Hydroxyisobutyric aciduria in two brothers.
Sasaki M, Kimura M, Sugai K, Hashimoto T, Yamaguchi S. Sasaki M, et al. Pediatr Neurol. 1998 Mar;18(3):253-5. doi: 10.1016/s0887-8994(97)00161-6. Pediatr Neurol. 1998. PMID: 9568924
Two Japanese brothers with 3-hydroxyisobutyric aciduria (3HiB-uria) are studied. The elder brother died of a ketoacidotic episode at the age of 4 years; the younger brother also manifested repeated episodes of ketoacidosis after 1 year of age. ...
Two Japanese brothers with 3-hydroxyisobutyric aciduria (3HiB-uria) are studied. The elder brother died of a ketoacidot …
Biochemical abnormalities in Pearson syndrome.
Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N. Crippa BL, et al. Am J Med Genet A. 2015 Mar;167A(3):621-8. doi: 10.1002/ajmg.a.36939. Am J Med Genet A. 2015. PMID: 25691415
Unique findings in our patients were acute pancreatitis (one out of four), renal Fanconi syndrome (present in all patients, but symptomatic only in one), and an unusual organic aciduria with 3-hydroxyisobutyric aciduria in one patient. Biochemical analysis in …
Unique findings in our patients were acute pancreatitis (one out of four), renal Fanconi syndrome (present in all patients, but symptomatic …