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]

• 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]

• Behavior Disorder

  […] delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. [orpha.net]

• Phenylketonuria

  Synthesis of tryptophan 331 9.1.3.1 The trp operon 333 9.2 Metabolism of phenylalanine and tyrosine 335 9.2.1 Phenylalanine ammonia lyase and lignin biosynthesis in plants 335 9.2.2 Polyphenol biosynthesis in plants 338 9.2.3 Phenylalanine hydroxylase and phenylketonuria [axon.es]

  In contrast to individuals who have other inherited disorders of amino acid degradation and who present with accumulating toxic metabolites and a severe clinical phenotype, such as phenylketonuria (MIM 261600), maple syrup urine disease (MIM 248600), [ncbi.nlm.nih.gov]

• Hyperactivity

  [from OMIM] Show allHide all Abnormality of the genitourinary system Alpha-aminoadipic aciduria Abnormality of the musculoskeletal system Hypotonia Microcephaly Abnormality of the nervous system Attention deficit hyperactivity disorder Delayed speech [ncbi.nlm.nih.gov]

  […] disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity [orpha.net]

• Delayed Speech and Language Development

  […] and language development Global developmental delay Mild global developmental delay IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

• 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]

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]

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]

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]