cystathioninuria


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cystathioninuria

 [sis″tah-thi″o-nin-u´re-ah]
a hereditary disorder of cystathionine metabolism, marked by increased concentrations in the urine, and due to deficiency of γ-cystathionase; mental retardation may be associated.

cys·ta·thi·o·nin·u·ri·a

(sis'tă-thī'ō-nin-yū'rē-ă), [MIM*219500]
A disorder characterized by inability to metabolize cystathionine, normally due to deficiency of cystathionase, with high concentration of the amino acid in blood, tissue, and urine; mental retardation is an associated condition; autosomal recessive inheritance.

cystathioninuria

/cys·ta·thi·o·nin·u·ria/ (sis″tah-thi″o-ne-nu´re-ah)
1. excess of cystathionine in the urine.
2. an inherited aminoacidopathy; a defect in cystathionine metabolism causes excess in urine and body tissues.

cystathioninuria

(sĭs″tă-thī″ō-nī-nū′rē-ă)
A hereditary disease caused by a deficiency of the enzyme important in metabolizing cystathionine, resulting in mental retardation, thrombocytopenia, and acidosis.
References in periodicals archive ?
Pyridoxal-5'-phosphate determination by a sensitive micromethod in human blood, urine and tissues; its relation to cystathioninuria in neuro-blastoma and biliary atresia.
Such a pattern is found in cystathioninuria (59), which is an autosomal recessive disorder without certain clinical consequences (3).
PN therapy is frequently recommended for various conditions, including genetic disorders, such as cystathioninuria and homocystinuria, and a range of other disorders, such as premenstrual tension, seizures, carpal tunnel syndrome, and the nausea and vomiting that can occur during pregnancy (1,3,21-23).
Pyridoxal 5'phosphate determination by a sensitive micromethod in human blood, urine and tissues: its relation to cystathioninuria in neuroblastoma and biliary atresia.