Homepage Rare diseases Search Search for a rare disease Disease definition 2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental [orpha.net]

Data are presented as the mean of four independent measurements ± the standard deviation. ∗p < 0.05, ∗∗p < 0.01, ∗∗∗p < 0.001. [ncbi.nlm.nih.gov]

References: Barshop BA, Nyhan WL, Naviaux RK, McGowan KA, Friedlander M, Haas RH: Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. Mol Genet Metab. 2000 Jan;69(1):64-8. [qpmf.rx.umaryland.edu]

Data are presented as the mean of five independent experiments ± the standard deviation (∗∗p < 0.01, ∗∗∗p < 0.001). Immunoblotting of the same cell lines was performed on mitochondria-enriched samples. [pubmed.ncbi.nlm.nih.gov]

Future compounds can be validated for their impact, using the DHTKD1-DLST interaction and pulldown assays presented in this work. [thesgc.org]

• Asymptomatic

  Acta Paediatr 88:911–914 CrossRefPubMed Peng H, Shinka T, Inoue Y et al (1999) Asymptomatic alpha-ketoadipic aciduria detected during a pilot study of neonatal urine screening. [springermedizin.de]

  More than half of them are asymptomatic, whereas others have developed mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy.1,2 A defect in 2-oxoadipate dehydrogenase was first suggested as an underlying [ncbi.nlm.nih.gov]

  [PubMed:6774165 ] Peng H, Shinka T, Inoue Y, Mitsubuchi H, Ishimatsu J, Yoshino M, Kuhara T: Asymptomatic alpha-ketoadipic aciduria detected during a pilot study of neonatal urine screening. Acta Paediatr. 1999 Aug;88(8):911-4. [hmdb.ca]

  Some patients remain asymptomatic until adulthood. [pathbank.org]

• Vomiting

  Symptoms inclue failure to thrive, large liver, mental and motor retardation and vomiting. [pathbank.org]

• Suggestibility

  […] previously diagnosed as having alpha-aminoadipic aciduria (alpha-AA) were subjected to a tryptophan loading test to determine if their condition resulted from a defect in the alpha-aminationoadipate aminotransferase (kynurenine aminosferase) system, which suggested [semanticscholar.org]

  Our data suggest that DHTKD1 is part of an OGDHc-like supercomplex responsible for the decarboxylation of 2-oxoadipate to glutaryl-CoA within the common degradative pathways of L-lysine, L-hydroxylysine, and L-tryptophan. [ncbi.nlm.nih.gov]

  Eur J Pediatr 153[Suppl 1]:S94–100 CrossRef PubMed CAS Google Scholar Kölker S, Mayatepek E, Hoffmann GF (2002) White matter disease in cerebral organic acid disorders: clinical implications and suggested pathomechanisms. [link.springer.com]

  This suggests that the hDHTKD1 N-terminal 45 aa, which differs from the equivalent region in hOGDH, does not play a role in the DHTKD1–DLST interaction. [thesgc.org]

• Irritability

  […] efficacy for preventing weight gain CN103728389B (en) * 2013-12-31 2016-04-27 杭州康德权饲料有限公司 HPLC method is used to measure the method for butyric acid and sodium butyrate WO2015125818A1 (en) * 2014-02-18 2015-08-27 小野薬品工業株式会社 Biomarker for diagnosis of irritable [patents.google.com]

• Neurologic Manifestation

  Hoffmann GF, Gibson KM, Trefz FK et al (1994) Neurological manifestations of organic acid disorders. [link.springer.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Physician’s guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. Heidelberg: Springer, pp 691–705 Goodman SI, Duran M (2014) Biochemical phenotypes of questionable clinical significance. [springermedizin.de]

Neurology 64:2142–2144 CrossRef PubMed Google Scholar Kölker S, Greenberg C, Lindner M et al (2004) Emergency treatment in glutaryl-CoA dehydrogenase deficiency. [link.springer.com]

Treatment with vigabatrin may mimic alpha-aminoadipic aciduria. Epilepsia. 1996;37:803–805. [PubMed] [Google Scholar] Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics [ncbi.nlm.nih.gov]

Since there is currently no cure for Salla disease, treatment involves managing the disorder's symptoms. Salla disease has been reported in approximately 150 people (mostly from Finland and Sweden) and ISSD has been reported in a few dozen infants. [pathbank.org]

Neuropediatrics 33:225–231 CrossRef PubMed Google Scholar Dancis J, Hutzler J, Ampola MG et al (1983) The prognosis of hyperlysinemia: an interim report. [link.springer.com]

Shi M, Wang C, Mei H, Temprosa M, Florez JC, Tripputi M, Merino J, Lipworth L, Shu XO, Gerszten RE, Wang TJ, Beckman JA, Gamboa JL, Mosley JD, Ferguson JF; Diabetes Prevention Program Research Group. Shi M, et al. [pubmed.ncbi.nlm.nih.gov]

However, in this disorder, the gene encoding sarcosine dehydrogenase has been mutated and the protein is not produced, preventing this reaction from occurring. [pathbank.org]

Pediatr Res 48:315–322 PubMed CAS Google Scholar Hoffmann GF, Athanassopoulos S, Burlina A et al (1996) Clinical course, early diagnosis, treatment and prevention of disease in glutaryl-CoA dehydrogenase deficiency. [link.springer.com]

We also provide chemical fragments that bind to DHTKD1, with potential for small molecule drug discovery by preventing the DHTKD-DLST interaction and therefore impairing OADHc activity. [thesgc.org]

Alpha-keto-isovalerate as a biomarker of the effectiveness of prebiotics to prevent weight gain JP6367915B2 (en) 2013-03-28 2018-08-01 ネステク ソシエテ アノニム Indoxyl sulfate as a biomarker of prebiotic efficacy for preventing weight gain CN103728389B (en) * 2013 [patents.google.com]