KEGG   DISEASE: Alpha-aminoadipic and alpha-ketoadipic aciduria
Entry
H02644                      Disease                                
Name
Alpha-aminoadipic and alpha-ketoadipic aciduria
Description
Alpha-aminoadipic and alpha-ketoadipic aciduria (AAKAD) is an autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan degradation. This disease is associated with varying neurological symptoms. DHTKD1 mutations have been reported in patients. DHTKD1 encodes the E1 subunit of the alpha-ketoadipic acid dehydrogenase complex.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H02644  Alpha-aminoadipic and alpha-ketoadipic aciduria
Pathway-based classification of diseases [BR:br08402]
 Amino acid metabolism
  nt06036  Lysine degradation
   H02644  Alpha-aminoadipic and alpha-ketoadipic aciduria
Pathway
hsa00310 Lysine degradation   
hsa00380 Tryptophan metabolism   
Network
nt06036 Lysine degradation
Gene
DHTKD1 [HSA:55526] [KO:K15791]
Other DBs
ICD-11: 5C50.4
OMIM: 204750
Reference
PMID:23141293
  Authors
Danhauser K, Sauer SW, Haack TB, Wieland T, Staufner C, Graf E, Zschocke J, Strom TM, Traub T, Okun JG, Meitinger T, Hoffmann GF, Prokisch H, Kolker S
  Title
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
  Journal
Am J Hum Genet 91:1082-7 (2012)
DOI:10.1016/j.ajhg.2012.10.006
Reference
PMID:25860818
  Authors
Hagen J, te Brinke H, Wanders RJ, Knegt AC, Oussoren E, Hoogeboom AJ, Ruijter GJ, Becker D, Schwab KO, Franke I, Duran M, Waterham HR, Sass JO, Houten SM
  Title
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.
  Journal
J Inherit Metab Dis 38:873-9 (2015)
DOI:10.1007/s10545-015-9841-9
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