Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

Journal of Inherited Metabolic Disease

Volumn 38, Issue 5, 2015, Pages 873-879

  Hagen, Jacob ^a   te Brinke, Heleen ^b   Wanders, Ronald J A ^b   Knegt, Alida C ^b   Oussoren, Esmee ^c   Hoogeboom, A Jeannette M ^c   Ruijter, George J G ^c   Becker, Daniel ^d   Schwab, Karl Otfried ^d   Franke, Ingo ^e   Duran, Marinus ^b   Waterham, Hans R ^b   Sass, Jörn Oliver ^d,f   Houten, Sander M ^a,b  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF FREIBURG   (Germany)

^e UNIVERSITY HOSPITAL BONN   (Germany)

^f BONN RHEIN SIEG UNIVERSITY OF APPLIED SCIENCES   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

2 AMINOADIPIC ACID; ADIPIC ACID DERIVATIVE; ALPHA HYDROXYADIPIC ACID; ALPHA KETOADIPIC ACID; COMPLEMENTARY DNA; DHTKD1 PROTEIN; OXIDOREDUCTASE; UNCLASSIFIED DRUG; ALPHA-KETOADIPIC ACID; DHTKD1 PROTEIN, HUMAN;

ABSENCE; ACIDURIA; ADOLESCENT; ALPHA AMINOADIPIC ACIDURIA; ALPHA KETOADIPIC ACIDURIA; ARTICLE; AUTISM; AUTOSOMAL RECESSIVE DISORDER; BIOTINIDASE DEFICIENCY; BLOOD LEVEL; CEREBELLUM HYPOPLASIA; CHROMOSOME DELETION 22Q11; CLINICAL ARTICLE; CLINICAL FEATURE; CONSTIPATION; CONVULSION; DEVELOPMENTAL DISORDER; DHTKD1 GENE; EEG ABNORMALITY; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HEPATOMEGALY; HIRSCHSPRUNG DISEASE; HUMAN; INBORN ERROR OF METABOLISM; INTELLECTUAL IMPAIRMENT; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NEWBORN; NEWBORN SCREENING; NONSENSE MUTATION; OBSESSION; PSYCHOMOTOR RETARDATION; RNA SPLICING; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; SLEEP DISORDER; SPEECH DELAY; URINARY EXCRETION; URINE LEVEL; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; CASE REPORT; DEFICIENCY; GENETICS; METABOLISM; PRESCHOOL CHILD; URINE; YOUNG ADULT;

2-AMINOADIPIC ACID; ADIPATES; ADOLESCENT; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT, NEWBORN; KETONE OXIDOREDUCTASES; MALE; YOUNG ADULT;

EID: 84940380702     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-015-9841-9     Document Type: Article

References (29)

1. Bunik VI, Degtyarev D (2008) Structure-function relationships in the 2-oxo acid dehydrogenase family: substrate-specific signatures and functional predictions for the 2-oxoglutarate dehydrogenase-like proteins. Proteins 71:874–890
2. Casey RE, Zaleski WA, Philp M, Mendelson IS, MacKenzie SL (1978) Biochemical and clinical studies of a new case of alpha-aminoadipic aciduria. J Inherit Metab Dis 1:129–135
3. Danhauser K, Sauer SW, Haack TB et al (2012) DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Am J Hum Genet 91:1082–1087
4. de Ligt J, Willemsen MH, van Bon BW et al (2012) Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367:1921–1929
5. Duran M, Beemer FA, Wadman SK, Wendel U, Janssen B (1984) A patient with alpha-ketoadipic and alpha-aminoadipic aciduria. J Inherit Metab Dis 7:61
6. Duran M, Dorland L, Wadman SK, Berger R (1994) Group tests for selective screening of inborn errors of metabolism. Eur J Pediatr 153:S27–S32
7. Fiermonte G, Dolce V, Palmieri L et al (2001) Identification of the human mitochondrial oxodicarboxylate carrier. Bacterial expression, reconstitution, functional characterization, tissue distribution, and chromosomal location. J Biol Chem 276:8225–8230
8. Fischer MH, Brown RR (1980) Tryptophan and lysine metabolism in alpha-aminoadipic aciduria. Am J Med Genet 5:35–41
9. Fischer MH, Gerritsen T, Opitz JM (1974) Alpha-aminoadipic aciduria, a non-deleterious inborn metabolic defect. Humangenetik 24:265–270
10. Gilissen C, Hehir-Kwa JY, Thung DT et al (2014) Genome sequencing identifies major causes of severe intellectual disability. Nature 511:344–347
11. Goodman SI, Duran M (2014) Biochemical phenotypes of questionable clinical significance. In Blau N, Duran M, Gibson KM, Dionisi-Vici C eds. Physician’s guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. Heidelberg: Springer, pp 691–705
12. Gray RGF, O’Neill EM, Pollitt RJ (1979) α-aminoadipic aciduria: chemical and enzymatic studies. J Inherit Metab Dis 2:89–92
13. Guescini M, Sisti D, Rocchi MB, Stocchi L, Stocchi V (2008) A new real-time PCR method to overcome significant quantitative inaccuracy due to slight amplification inhibition. BMC Bioinformatics 9:326
14. Houten SM, te Brinke H, Denis S et al (2013) Genetic basis of hyperlysinemia. Orphanet J Rare Dis 8:57
15. Lehnert W (1994) Long-term results of selective screening for inborn errors of metabolism. Eur J Pediatr 153:S9–S13
16. Lormans S, Lowenthal A (1974) Alpha-amino adipic aciduria in an oligophrenic child. Clin Chim Acta 57:97–101
17. Manders AJ, von Oostrom CG, Trijbels JM, Rutten FJ, Kleijer WJ (1981) alpha-Aminoadipic aciduria and persistence of fetal haemoglobin in an oligophrenic child. Eur J Pediatr 136:51–55
18. Peng H, Shinka T, Inoue Y et al (1999) Asymptomatic alpha-ketoadipic aciduria detected during a pilot study of neonatal urine screening. Acta Paediatr 88:911–914
19. Przyrembel H, Bachmann D, Lombeck I et al (1975) Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies. Clin Chim Acta 58:257–269
20. Sewell AC, Herwig J, Bohles H, Abeling NG, van Gennip AH (1999) Normal kynurenine metabolism in 2-oxoadipic aciduria. J Inherit Metab Dis 22:949–950
21. Takechi T, Okada T, Wakiguchi H et al (1993) Identification of N-acetyl-alpha-aminoadipic acid in the urine of a patient with alpha-aminoadipic and alpha-ketoadipic aciduria. J Inherit Metab Dis 16:119–126
22. Vianey-Liaud C, Divry P, Cotte J, Teyssier G (1985) alpha-Aminoadipic and alpha-ketoadipic aciduria: detection of a new case by a screening program using two-dimensional thin layer chromatography of amino acids. J Inherit Metab Dis 8(Suppl 2):133–134
23. Wendel U, Rudiger HW, Przyrembel H, Bremer HJ (1975) Alpha-ketoadipic aciduria: degradation studies with fibroblasts. Clin Chim Acta 58:271–276
24. Wilcken B, Smith A, Brown DA (1980) Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected by screening one millon babies. J Pediatr 97:492–497
25. Wilson RW, Wilson CM, Gates SC, Higgins JV (1975) Alpha-ketoadipic aciduria: a description of a new metabolic error in lysine-tryptophan degradation. Pediatr Res 9:522–526
26. Wu Y, Williams EG, Dubuis S et al (2014) Multilayered genetic and omics dissection of mitochondrial activity in a mouse reference population. Cell 158:1415–1430
27. Xu WY, Gu MM, Sun LH et al (2012) A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. Am J Hum Genet 91:1088–1094
28. Xu W, Zhu H, Gu M et al (2013) DHTKD1 is essential for mitochondrial biogenesis and function maintenance. FEBS Lett 587:3587–3592
29. Yang Y, Muzny DM, Reid JG et al (2013) Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 369:1502–1511