systemic primary carnitine deficiency disease
Findings
No curated finding names systemic primary carnitine deficiency disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
Definition from the Mondo Disease Ontology (MONDO:0008919), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating carnitine concentrationHPOHP:0003234
- 5 of 5 reported patients
- Acute encephalopathyHPOHP:0006846
- Very frequent (80% to 99% of cases)
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- Very frequent (80% to 99% of cases)
- ClumsinessHPOHP:0002312
- Very frequent (80% to 99% of cases)
- ConfusionHPOHP:0001289
- Very frequent (80% to 99% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Very frequent (80% to 99% of cases)
Show the remaining 13
- DehydrationHPOHP:0001944
- 2 of 5 reported patients
- DiarrheaHPOHP:0002014
- 1 of 5 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 5 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 5 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 5 reported patients
- Elevated urinary dicarboxylic acid levelHPOHP:0003215
- 1 of 5 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC22A5HGNC:10969
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
11 names
Resolves to: systemic primary carnitine deficiency disease
- Also called
- Carnitine deficiencyCarnitine transporter defectcarnitine transporter deficiencycarnitine uptake defectCarnitine uptake deficiencyCDSPCUDdeficiency of plasma-membrane carnitine transporterprimary carnitine deficiencyrenal carnitine transport defectSPCD