Prolidase Deficiency

Associated Genes

Peptidase D
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

170100

Mode of Inheritance

Autosomal recessive

Gene Map Locus

19q13.11

Description

Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectases with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos. Clinical manifestations are usually detectable after birth or in early childhood, but late-onset cases have been reported [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
170100.1LebanonMaleYesYes Skin ulcer; Microcytic anemia; Hypochrom...NM_000285.4:c.549-1G>AHomozygousAutosomal, RecessiveHajjar et al. 2021
170100.2LebanonFemaleYesYes Skin ulcer; Microcytic anemia; Hypochrom...NM_000285.4:c.549-1G>AHomozygousAutosomal, RecessiveHajjar et al. 2021 Sibling of 170100.1

Other Reports

Lebanon

Freij et al (1984) described two siblings with Prolidase Deficiency. The brothers presneted with recurrent skin ulcers of the lower limbs, subnormal intelligence, developmental abnormalities, and poliosis, and were found to excrete large quantities of several imidodipeptides in their urine, especially glycylproline. RBCs showed markedly reduced prolidase activity. 

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