hyperornithinemia

hy·per·or·ni·thi·ne·mi·a

(hī'pĕr-ōr'ni-thi-nē'mē-ă),

Elevated levels of ornithine in the serum; sometimes associated with hyperammonemia and homocitrullinuria.

hyperornithinemia

/hy·per·or·ni·thin·emia/ (-or″nĭ-thĭ-ne´me-ah) excess of ornithine in the plasma.

hyperornithinemia

[-ôr′nithinē′mē·ə]

a metabolic disorder involving the amino acid ornithine, which tends to accumulate in the tissues, causing seizures and retardation. Treatment is a low-protein diet.

Mentioned in ?

References in periodicals archive ?

Some specific diseases were confined to Arabs from Northern Oman such as MSUD (17/17), BPD-PKU (3/3), some urea cycle defects [ASA (4/6) hyperornithinemia (2/2), Citrullinemia (3/3), OTC deficiency (2/2)], VLCAD (3/3), HMG-CoA lyase deficiency (9/9), CPT-I deficiency (5/5), and 3-Methylglutaconic aciduria (2/2).

4%) BPD-PKU 3 2 Citrullinemia 3 3 NKHG 3 2 Homocystunuria 3 3 Hyperornithinemia 2 2 OTC deficiency 2 2 Organic Acid Propionic acidemia 14 11 Disorders Isovaleric Acidemia 10 7 35/119 MMA 5 2 (29.

Detection of inborn errors of metabolism using tandem mass spectrometry among high-risk Omani patients

This observation may be of clinical interest in conditions of hyperornithinemia.

Reduced brain creatine in gyrate atrophy of the choroid and retina with hyperornithinemia.

Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency

HYPERORNITHINEMIA, HYPERAMMONEMIA, HYPERHOMOCITRULLINURIA (HHH) SYNDROME

Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England newborn screening program

A positive allopurinol test has also been reported in the hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome (6).

Argininemia; citrullinemia; argininosuccinic aciduria; lysinuric protein intolerance hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome; and mitochondrial disorders were ruled out.

Optimization of allopurinol challenge: sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency