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Summary
2-KETOADIPIC ACIDEMIA
KETOADIPICACIDURIA
245130, 20
OMIM = Online Medalian Inheritance of Men
unknown
rare
autosomal recessive
see Alpha-aminoadipic aciduria (204750) several affected individuals have been described with no clinical symptoms
symptoms
Amino acids, plasma
Amino acids, urine
ataxia
hypotonia
mental retardation
metabolic acidosis
no clinical signs or symptoms
Organic acids, urine
seizures
skin defects
laboratory finding
2-Hydroxyadipic acid50.00220.000.002.00mmol/mol creatinineurine
2-Ketoadipic acid20.00220.000.002.00mmol/mol creatinineurine
2-Aminoadipic acid150.001500.000.0012.00mmol/mol creatinineurinechild
2-Aminoadipic acid30.0080.00 -Ámol/lplasma
N-Acetyl-2-aminoadipic acid increasedurine
2-Hydroxyglutaric acid (L) 1.0019.00increasedurine
Fumaric acid0.000.00 increasedurineno data
Malic acid0.000.00 increasedurineno data
Succinate0.000.00 increasedurineno data
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Gerritsen TWaisman HAHypersarcosinaemia: an inborn error of metabolismN Engl J Med275066-691966
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991