U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Search results

Items: 3

1.

Hyperdibasic aminoaciduria type 1

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. [from MONDO]

MedGen UID:
435997
Concept ID:
C2673736
Disease or Syndrome
2.

Hyperlysinuria with hyperammonemia

MedGen UID:
120650
Concept ID:
C0268555
Disease or Syndrome
3.

Dibasicaminoaciduria

An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually referred 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]

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

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity