Arginase Deficiency
- Introduction
- What is arginase deficiency and what causes it?
- What are the symptoms of arginase deficiency?
- How is it diagnosed?
- What is the prognosis?
- What is the risk to other family members and future children?
- What treatments/therapies/medications are recommended or available?
- How will my child’s and our family’s life be changed?
- Resources
Introduction
What is arginase deficiency and what causes it?
What are the symptoms of arginase deficiency?
How is it diagnosed?
What is the prognosis?
What is the risk to other family members and future children?
What treatments/therapies/medications are recommended or available?
How will my child’s and our family’s life be changed?
Resources
Information & Support
For Parents and Patients
Support
National Urea Cycle Disorders Foundation
Support and information that includes medical lectures on urea cycle disorders, nutrition and medication resources, and information
about events and conferences.
General
Argininemia - Information for Parents (STAR-G)
A fact sheet, written by a genetic counselor and reviewed by genetic specialists, for families who have received a diagnosis
of arginase deficiency; Screening, Technology, and Research in Genetics.
Arginase deficiency (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources;
from the National Library of Medicine.
Urea Cycle Abnormalities (Medline Plus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources;
from the National Library of Medicine.
Genetics in Primary Care Institute (AAP)
Contains health supervision guidelines and other useful resources for the care of children with genetic disorders; American
Academy of Pediatrics.
Patient Education
Learn the Signs. Act Early (CDC)
Offers many tools, videos, lists, learning materials, and an app to track a child’s developmental milestones (ages 2 months
to 5 years) and act if concerned about progress; Centers for Disease Control and Prevention.
Services for Patients & Families in Rhode Island (RI)
Service Categories | # of providers* in: | RI | NW | Other states (5) (show) | | ID | MT | NM | NV | UT |
---|---|---|---|---|---|---|---|---|---|---|
Early Intervention for Children with Disabilities/Delays | 13 | 2 | 148 | 28 | 156 | 30 | 56 | |||
Nutrition, Metabolic | 18 | 16 | 16 | 17 | 16 | 17 | 17 | |||
Pediatric Genetics | 4 | 1 | 3 | 7 | 4 | 5 | 7 | |||
Pediatric Metabolics | 2 | 1 | 1 | 1 | 2 |
For services not listed above, browse our Services categories or search our database.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.