Alpha-Aminoadipic and Alpha-Ketoadipic Aciduria (AAKAD)

Alias:

2-Aminoadipic 2-Oxoadipic Aciduria

Amoxad

Alpha-Aminoadipic Aciduria

2-Ketoadipic Aciduria

Aakad

Aciduria, 2-Aminoadipic 2-Oxoadipic

Amino Adipic Aciduria

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Alpha-Aminoadipic and Alpha-Ketoadipic Aciduria, also known as 2-aminoadipic 2-oxoadipic aciduria, is related to mitochondrial dna depletion syndrome 18 and hypotonia. An important gene associated with Alpha-Aminoadipic and Alpha-Ketoadipic Aciduria is DHTKD1 (Dehydrogenase E1 And Transketolase Domain Containing 1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Related phenotypes are global developmental delay and mild global developmental delay

Related ID：

MALACARDS：ALP112

OMIM：204750

MESH：D000592