Epidemiology and precise phenotyping of arginase deficiency through targeted diagnostics of symptomatic patients

Recruiting

Conditions: ORPHA:90Arginase deficiency (argininaemia)
E72.2
Disorders of urea cycle metabolism

Registration Number: DRKS00033479

Lead Sponsor: niversitätsklinikum Heidelberg

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: All

Target Recruitment: 10

Inclusion Criteria

Arm 1:
- Confirmed arginase deficiency (biochemically, enzymatically or molecularly confirmed).

Arm 2:
- Presence of a progressive spastic syndrome that is etiologically unexplained and cannot be explained by the presence of infantile cerebral palsy.
- Presence of a complete, valid informed consent form from the legal guardians and, if possible, from the underage patients according to their age group.
- Optional: Presence of one or more of the following symptoms: cognitive developmental disorder, failure to thrive, epilepsy, history of hyperammonaemia (> 1 documented episode)

Exclusion Criteria

Arm 1:
- Adults = 18 years.

Arm 2:
- Adults = 18 years of age.
- Invalid or incomplete informed consent form available.
- Patients who have already undergone genetic analysis (exome or genome sequencing, Sanger sequencing of the ARG1 gene) without evidence of the biallelic presence of pathogenic ARG1 variants.
- Patients with previous determination of amino acids in plasma or dried blood that have ruled out the presence of arginase deficiency.

Study & Design

Study Type: observational

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
- To determine the prevalence of arginase deficiency in children and adolescents up to 18 years of age by surveying the number of diagnosed cases of arginase deficiency in Germany, Austria and Switzerland.<br>- Description of the clinical spectrum and disease course of arginase deficiency based on the distribution and frequency of disease-specific symptoms.<br>- Shortening the diagnostic latency in patients (< 18 years) with a suggestive medical history (etiologically unexplained, progressive spastic syndrome) by specifically clarifying the presence of arginase deficiency.

Secondary Outcome Measures