prolinemia

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prolinemia

[‚prō·lə′nē·mē·ə]
(medicine)
A rare hereditary disease caused by absence of the degradative enzymes that convert proline to glutamic acid, and characterized by a high content of proline in blood and urine with consequent mental retardation and renal malfunction.
References in periodicals archive ?
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
Hyperprolinemia is a risk factor for schizoaffective disorder.
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.
Evidence for association of hyperprolinemia with schizophrenia and a measure of clinical outcome.
Type II Hyperprolinemia (HP II) is a rare inherited autosomal recessive disorder of amino acid metabolism characterized by the hepatic deficiency of -1-pyrroline-5-carboxylic acid dehydrogenase activity, which leads to tissue accumulation of proline (Pro) (Phang et al.
Furthermore, we have diagnosed two cases of hyperprolinemia by measuring the peak-height ratio of proline (m/z 172) to phenylalanine.
Because Hizentra contains the stabilizer L-proline, it is also contraindicated in patients with hyperprolinemia.
Privigen[TM] is contraindicated in patients who have had an anaphylactic or severe systemic reaction to the administration of human immune globulin, in patients with hyperprolinemia, and in patients with selective IgA deficiency.