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2-AMINOADIPIC ACIDURIA (AMOCAD, AMOXAD)

2-AMINOADIPIC ACIDURIA (AMOCAD, AMOXAD)
AMINOADIPIC ACIDURIA; AMOXAD
204750
OMIM = Online Mendelian Inheritance of Men
79154
Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
1.2.4.2
10p14
E72.3
rare (<1:1000000)
autosomal recessive
mutation in the DHTKD1 gene
see 2-Ketoadipic acidemia
Laboratory findings    2-Aminoadipic acid inc (plasma)
    2-Aminoadipic acid inc (urine)
    2-Oxoadipic acid inc (urine)
Symptoms   developmental delay
   seizures
    edema
    hypotonia
    mental retardation
    microcephaly (<2 SD for age)
    no clinical symptoms (probably)
    onset, childhood
    onset, infancy
    onset, neonatal
    speech development, delayed, abnormal
    tachypnea, hyperpnea, dyspnea, hyperventilation