Dibasicaminoaciduria

MedGen UID:: 871169
•Concept ID:: C4025643
•: Disease or Syndrome

HPO:	HP:0003168

Definition

An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His). [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDibasicaminoaciduria

Abnormality of the urinary system
- Abnormality of the urinary system physiology
  - Abnormality of urine homeostasis
    - Abnormal urine metabolite level
      - Aminoaciduria
        Increased proteinogenic amino acid level in urine
        Dibasicaminoaciduria

Conditions with this feature

Hyperlysinuria with hyperammonemia

MedGen UID:: 120650
•Concept ID:: C0268555
•: Disease or Syndrome

See: Condition Record

Hyperdibasic aminoaciduria type 1

MedGen UID:: 435997
•Concept ID:: C2673736
•: Disease or Syndrome

Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.

See: Condition Record

Hyperdibasic aminoaciduria type 1

Hyperlysinuria with hyperammonemia