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2-aminoadipic 2-oxoadipic aciduria(AAKAD)

MedGen UID:
395350
Concept ID:
C1859817
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

Definition

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:
860374
Concept ID:
C4011937
Finding
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:
1842134
Concept ID:
C5826412
Finding
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:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
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:
220387
Concept ID:
C1263846
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:
861405
Concept ID:
C4012968
Finding
A mild delay in the achievement of motor or mental milestones in the domains of development of a child.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
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.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
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.

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