2-AMINOADIPIC ACIDURIA (AMOCAD, AMOXAD)

rare (<1:1000000) autosomal recessive mutation in the DHTKD1 gene see 2-Ketoadipic acidemia

2-Aminoadipin-2-Oxo-Adipin-Azidurie; Alpha-Aminoadipinazidurie

Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial

Question 1

What is  2-AMINOADIPIC ACIDURIA (AMOCAD, AMOXAD)?

Accepted Answer

rare (<1:1000000)
autosomal recessive
mutation in the DHTKD1 gene
see 2-Ketoadipic acidemia

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

2-Aminoadipin-2-Oxo-Adipin-Azidurie; Alpha-Aminoadipinazidurie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 204750

Question 4

Which enzymes are involved?

Accepted Answer

Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial

Disease	2-AMINOADIPIC ACIDURIA (AMOCAD, AMOXAD)
Synonym	AMINOADIPIC ACIDURIA; AMOXAD
OMIM	204750 OMIM = Online Mendelian Inheritance of Men
Orphanet	79154
Protein (UniProt)	Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
ExPASy	1.2.4.2
Gene locus	10p14
ICD	E72.3
Summary	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