Congenital Expression of Prolidase Defect in Prolidase Deficiency

Er, Naughten; Sp, Proctor; Hl, Levy; Jt, Coulombe; Mg, Ampola

doi:10.1203/00006450-198403000-00008

Cited by 12 publications

(6 citation statements)

References 13 publications

(14 reference statements)

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“…Indeed the much reduced ability of abnormal peak II to hydrolyse Gly-Pro as compared with the other substrates explains why only activity against Gly-Pro showed a marked defciency in an abnormal fibroblast extract . Reports (Gray et al, 1983;Pedersen et al, 1983;Butterworth and Priestman, 1984;Naughton et al, 1984;Priestman and Butterworth, 1984) showing residual activity against Gly-Pro in prolidase deficiency can be attributed to the use of assay conditions capable of detecting peak II activity.…”

Section: Propertiesmentioning

confidence: 99%

Presence in human cells and tissues of two prolidases and their alteration in prolidase deficiency

Butterworth

Priestman

1985

J of Inher Metab Disea

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Two forms of prolidase can be separated for all the human cells and tissues examined by DEAE-cellulose column chromatography or batch methods. Serum had a very low prolidase activity eluting as a single peak prior to tissue peak I prolidase. Analysis of the two peaks can readily be carried out using white blood cells, cultured skin fibroblasts and amniotic fluid cells. Dialysis inactivated peak II prolidase although the loss can be prevented by the presence of dithiothreitol. The two peaks differed in their response to Mn(2+), substrate specificity, heat stability and inhibition by p-hydroxymercuribenzoate. In two unrelated cases of prolidase deficiency, fibroblast peak I was markedly reduced, although still detectable, whereas peak II was active against all the substrates, except for a 90% reduction against glycyl-L-proline. The properties of peak II were altered in the disease. The results imply that the two forms of prolidase are structurally related.

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Section: Propertiesmentioning

confidence: 99%

Presence in human cells and tissues of two prolidases and their alteration in prolidase deficiency

Butterworth

Priestman

1985

J of Inher Metab Disea

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“…The most abundant of these urinary iminodipeptides is glycylproline (1). Some asymptomatic individuals have been detected by neonatal screening programs (2), and by investigation of sibs of clinically affected probands (3,4).…”

mentioning

confidence: 99%

In Situ Activation of Human Erythrocyte Prolidase: Potential for Enzyme Replacement Therapy in Prolidase Deficiency

et al. 1988

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“…Management remains challenging, with varying treatment outcomes reported but no established practice guidelines. Topical proline and glycine ointments, immunomodulatory therapies, topical tacrolimus and steroids, hyperbaric oxygen therapy, and anticoagulant treatments have been attempted with delayed partial healing of wounds and halting progression of ulcers, but there is no definitive cure as ulcers recur after some time, ranging from a few months to a year [3][4][5][6][7][8].…”

Section: Discussionmentioning

confidence: 99%

Cluster Case of Prolidase Deficiency: Varied Clinical Presentations and Management in a Sibling Trio

Azhar,

Khan,

Faizullah

et al. 2023

Cureus

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Prolidase deficiency (PD) is an exceptionally rare autosomal recessive disorder characterized by impaired collagen degradation, leading to the accumulation of proline-containing dipeptides. We report a cluster case of three siblings aged 17, 19, and 20 years, comprising of two sisters and one brother, who presented with non-healing ulcers on their shins and feet along with facial features of hypertelorism, depressed nasal bridge, reduced intellectual function, and high-arched palate. History and clinical features were consistent with PD. Due to the rarity of the disease and low socioeconomic background of the patients, specialized investigations or treatments were either unavailable or inaccessible. Furthermore, surgical intervention was ill-advised. Despite these challenges, patients were treated using improvised tailored therapy using three different modalities and showed remarkable progress. The evaluation and management took place at the dermatology unit of Hayatabad Medical Complex in Peshawar, Pakistan.

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Congenital Expression of Prolidase Defect in Prolidase Deficiency

Cited by 12 publications

References 13 publications

Presence in human cells and tissues of two prolidases and their alteration in prolidase deficiency

Presence in human cells and tissues of two prolidases and their alteration in prolidase deficiency

In Situ Activation of Human Erythrocyte Prolidase: Potential for Enzyme Replacement Therapy in Prolidase Deficiency

Cluster Case of Prolidase Deficiency: Varied Clinical Presentations and Management in a Sibling Trio

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