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2-KETOADIPIC ACIDEMIA

2-KETOADIPIC ACIDEMIA
KETOADIPICACIDURIA;
245130
OMIM = Online Mendelian Inheritance of Men
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unknown
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rare
autosomal recessive
see Alpha-aminoadipic aciduria (204750) several affected individuals have been described with no clinical symptoms
Laboratory findings    2-Aminoadipic acid inc (plasma)
    2-Aminoadipic acid inc (urine)
    2-Hydroxyadipic acid inc (urine)
    2-Oxoadipic acid inc (urine)
    Fumaric acid inc (urine)
    Malic acid inc (urine)
    N-Acetyl-2-aminoadipic acid inc (urine)
    Succinic acid inc (urine)
Symptoms    Amino acids, plasma
    Amino acids, urine
    ataxia
    hypotonia
    mental retardation
    metabolic acidosis
    no clinical symptoms (probably)
    onset, infancy
    Organic acids, urine
    seizures
    skin defects