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Summary
2-KETOADIPIC ACIDEMIA
KETOADIPICACIDURIA
245130
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 consistent clinical signs or symptoms
onset, infancy
Organic acids, urine
seizures
skin defects
laboratory finding
2-Oxoadipic acid50.00220.000.002.00mmol/mol creatinineurinechild
2-Aminoadipic acid150.001500.000.0012.00mmol/mol creatinineurinechild
2-Aminoadipic acid30.0080.00 -Ámol/lplasma
N-Acetyl-2-aminoadipic acid increasedurine
Fumaric acid100.001000.00 mmol/mol creatinineurine
Malic acid500.001500.00 mmol/mol creatinineurine
Succinic acid400.001200.00 mmol/mol creatinineurine
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