U.S. flag

An official website of the United States government


Send to:

Choose Destination

2-aminoadipic 2-oxoadipic aciduria(AAKAD)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: AAKAD; ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA; Amino Adipic Aciduria; Aminoadipic aciduria
SNOMED CT: Alpha-aminoadipic aciduria (782918002); 2-aminoadipic 2-oxoadipic aciduria (782918002)
Gene (location): DHTKD1 (10p14)
Monarch Initiative: MONDO:0008774
OMIM®: 204750
Orphanet: ORPHA79154


Alpha-aminoadipic and alpha ketoadipic aciduria (AAKAD) is an inborn error of lysine, tryptophan, and hydroxylysine metabolism, which is manifested by the accumulation and excretion of 2-aminoadipic, 2-ketoadipic, and 2-hydroxyadipic acids. [from OMIM]

Clinical features

From HPO
Alpha-aminoadipic aciduria
MedGen UID:
Concept ID:
The concentration of alpha-aminoadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.
2-hydroxyadipic aciduria
MedGen UID:
Concept ID:
The concentration of 2-hydroxyadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.
Delayed speech and language development
MedGen UID:
Concept ID:
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
Concept ID:
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Attention deficit hyperactivity disorder
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.
Mild global developmental delay
MedGen UID:
Concept ID:
A mild delay in the achievement of motor or mental milestones in the domains of development of a child.
MedGen UID:
Concept ID:
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
MedGen UID:
Concept ID:
Head circumference below 2 standard deviations below the mean for age and gender.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV2-aminoadipic 2-oxoadipic aciduria
Follow this link to review classifications for 2-aminoadipic 2-oxoadipic aciduria in Orphanet.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...