carnitine palmitoyl transferase deficiency - Symptoms, Causes & Research | Kisho | Kisho

carnitine palmitoyl transferase deficiency

Rare Disease

MONDO:0700284

Genes

Clinical Trials

2 active

Newborn Screening

–

Patient Groups

–

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Last reviewed: Feb 2026

Evidence base: Early

Find Clinical TrialsTrials

Clinical Trials

Research studies investigating treatments and therapies for this condition.

Active Trials

Total Trials

Filter trials on ClinicalTrials.gov:

View Recruiting Trials View All Trials

Data from ClinicalTrials.gov Jan 7, 2026

Clinical Trials

Research studies investigating treatments and therapies for this condition.

Active Trials

Total Trials

Filter trials on ClinicalTrials.gov:

View Recruiting Trials View All Trials

Data from ClinicalTrials.gov Jan 7, 2026

Overview

Limited structured data is available for this condition. Information continues to be gathered as research progresses.(3 data sources · Data coverage: Limited)

Overview

Carnitine palmitoyl transferase deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Symptoms & Signs

Currently, there are no known associated genes or inheritance patterns documented for this condition. Additionally, no specific symptoms or orphan drug designations have been identified.

Prognosis & Outlook

Patients and caregivers are encouraged to seek genetic counseling to understand potential hereditary implications. Connecting with rare disease registries, such as NORD or Orphanet, may provide additional resources and support. Finding specialists experienced with similar conditions can also be beneficial.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

1 gene

CPT1A

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Clinical Trials

Research studies investigating treatments and therapies for this condition.

Active Trials

Total Trials

Filter trials on ClinicalTrials.gov:

View Recruiting Trials View All Trials

Data from ClinicalTrials.gov Jan 7, 2026

Support

Know a Patient Advocacy Group for this condition?

Help patients and families find support by registering your organization or suggesting a group that serves this community.

Was this helpful?

AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.

Need this data in your product?

Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.

Explore API Start Free

← Back to All Diseases

carnitine palmitoyl transferase deficiency

Patient-Friendly Information

Clinical Trials

Clinical Trials

Overview

Overview

Symptoms & Signs

Prognosis & Outlook

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Treatment

Clinical Trials

Support

Related Diseases

Know a Patient Advocacy Group for this condition?

Need this data in your product?