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inborn disorder of peptide metabolism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inborn disorder of peptide metabolism

MONDO:0019232

Also known as:disorder of peptide metabolism

Overview

OnsetINFANTILE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: infancy.

GeneReviews

Clinical Guidance

To date, more than 175 individuals from more than 90 families have been identified with prolidase deficiency, as recently reviewed by and . The following description of the phenotypic features associated with this condition is based on these reviews. Note: A minority of individuals (n=5) have remained asymptomatic, despite biochemical or molecular confirmation of prolidase deficiency [, , , , ]. However, limited long-term information is available on these individuals; the oldest asymptomatic individual was 29 years old at the time of report. Table 2. Prolidase Deficiency: Frequency of Select Features

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for prolidase deficiency have been published.

Suggestive Findings

Prolidase deficiency should be suspected in individuals with the following clinical, biochemical, other supportive laboratory, and family history findings.

Clinical findings

Source: GeneReviews — "Prolidase Deficiency"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for inborn disorder of peptide metabolism. The disease remains an area of unmet medical need.

Gene therapy approaches for inborn disorder of peptide metabolism have been reported in the published literature.

GeneReviews

Management Guidelines

No clinical practice guidelines for prolidase deficiency have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with prolidase deficiency, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Prolidase Deficiency

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 6. Recommended Surveillance for Individuals with Prolidase Deficiency

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for inborn disorder of peptide metabolism.

235 publications have been identified in PubMed for inborn disorder of peptide metabolism. Kisho has analyzed 178 by research type. Research spans Basic Science / Preclinical (35%), Case Report / Case Series (22%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Laboratory research	62	35%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 5:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79187

GARD

Genetic and Rare Diseases Info Center

GARD:18963

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Feature	% of Personsw/Feature	Comment
Dysmorphic facial features	66%	—
Skin ulcers	62%	Most commonly affecting lower extremities, particularly feet
ID/DD	58%	IQ ranging from 30 to 901 in those who have undergone IQ testing (n=18)
Recurrent infections	48%	Commonly sinopulmonary infections or gastroenteritis
Organomegaly	45%	Mostly splenomegaly, rarely (14%) accompanied by hepatomegaly
Skeletal findings	34%	Incl hand/feet (14%) other limb (6%) abnormalities, osteopenia (7%), joint hypermobility (7%), or arthritis (5%)
Anemia	30%	—
Thrombocytopenia	18%	—
Chronic pulmonary disease	12%	Excl asthma (7%)
Autoimmune disease	12%	Incl SLE or SLE-like features, rhupus,2 autoimmune GI disease or arthritis
Hypergammaglobulinemia	15%	Incl hyper IgG hyper IgE DD = developmental delay; GI = gastrointestinal; ID = intellectual disability; IgG = immunoglobulin G; IgE = immunoglobulin E; SLE = systemic lupus erythematosus The formal medical definition of intellectual disability is an IQ score lower than 70.

GeneReviews

Differential Diagnosis

Disorders with imidodipeptiduria. Imidodipeptiduria has been described in bone disorders, presumably originating from collagen under conditions of high bone turnover [, , , ]. Genetic disorders with skin ulcers and/or hyper IgE. See . Table 3. Genetic Disorders with Skin Ulcers and/or Immune Deficiency in the Differential Diagnosis of Prolidase Deficiency

Gene	DiffDx Disorder	MOI	Key Features of DiffDx Disorder	Distinguishing Features
DOCK8	DOCK8 deficiency (DOCK8 AR HIES) (OMIM 243700)	AR	Primary immune deficiency syndrome characterized by serum concentration of IgE, severe eczema, recurrent skin lung infections, all of which can also be seen in prolidase deficiency.	In DOCK8-HIES: incidence of neurologic abnormalities, occurrence of viral infections of skin (e.g., Molluscum contagiosum, warts) virus-driven malignancies.Note: Nonimmunologic findings of STAT3-HIES (e.g., connective tissue, skeletal, dental involvement) are absent in DOCK8-HIES.1
HBB	Sickle cell disease (SCD)	AR	Intermittent vaso-occlusive events chronic hemolytic anemia. Persons w/highest rates of hemolysis are predisposed to leg ulcers.	In SCD: While urinary excretion of hydroxyproline has been significantly in persons w/SCD compared to controls2 (presumably due to bone involvement), glycylprolinuria has not been reported.
Beta-thalassemia	AR	synthesis of hemoglobin subunit beta that amounts of hemoglobin A, microcytic hypochromic anemia, abnormal peripheral blood smear w/nucleated red blood cells. Leg ulcers are reported in untreated or poorly transfused persons w/beta-thalassemia.	Imidopeptiduria is not known to occur in beta-thalassemia. Persons w/prolidase deficiency should have normal hemoglobin electrophoretic pattern.	—
STAT3	STAT3 hyper IgE syndrome (STAT3-HIES)	AD	Primary immune deficiency syndrome characterized by serum IgE, eczema, recurrent skin respiratory tract infections, together w/nonimmune features.	Mucocutaneous candidiasis is frequent in STAT3-HIES, but not commonly reported in prolidase deficiency. Retention of primary teeth bone fractures following minimal trauma are also distinguishing features of STAT3-HIES. WRN
Werner syndrome	AR	Cancer predisposition premature appearance of features assoc w/normal aging. Findings shared by prolidase deficiency Werner syndrome: chronic lower-extremity ulcers, premature graying of hair, "bird-like" facial appearance.	—	—

Source: GeneReviews — "Prolidase Deficiency"

System/Concern	Evaluation	Comment
Constitutional	Measurement of growth parameters	To assess for abnormal growth, short stature, microcephaly
Skin	Full skin exam	Consider consultation w/wound care specialist.
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education
Neurologic	Neurologic eval	Consider brain MRI if clinically indicated.; Consider EEG if seizures are a concern.
Gastrointestinal	Physical exam to assess for hepatosplenomegaly	If present, perform abdominal ultrasound to assess extent. Measurement of liver enzymes (AST/ALT)
Hematologic	Complete blood count	To assess for anemia thrombocytopenia
Immunologic	Quantitative immunoglobulins	To assess for hyperimmunoglobulinemia Consider eval for autoimmune condition in presence of consistent clinical signs/symptoms.
Cardiac	Assess for any pulmonary issues.	If present, consider:; Chest imaging, including chest x-ray;; Pulmonary function tests;; Echocardiogram to assess for pulmonary hypertension.
Musculoskeletal	Orthopedics/ physical medicine rehab/ PT OT eval	To incl assessment of:; Gross motor fine motor skills Bone health assessment should be considered on individual basis.
Eyes	Ophthalmologic eval	To assess for BCVA, refractive errors, optic nerve abnormalities, more complex findings that may require subspecialty referral.
ENT/Mouth	Dental eval	For dental anomalies (in those whose teeth have erupted) Genetic
counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of prolidase deficiency to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with Prolidase Deficiency Manifestation/Concern	Treatment	Considerations/Other
Skin ulcers1	Standard treatment by wound care specialist	Topical proline (often 5%) ointment w/liquid paraffin applied w/dressing changes
DD/ID	See .	—
Epilepsy	Standardized treatment w/ASM by experienced neurologist	No ASM has been demonstrated effective specifically for this disorder.
Hepatosplenomegaly	No specific treatment is typically available.	Avoid contact sports. Anemia/ Thrombocytopenia

Kisho

inborn disorder of peptide metabolism

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Trials

Recent Publications

inborn disorder of peptide metabolism

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Trials

Recent Publications