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Renal carnitine transport defect

Synonyms
CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF; Carnitine Deficiency, Systemic; Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine; Carnitine plasma-membrane transporter deficiency; Carnitine transporter deficiency; Carnitine uptake defect; Primary carnitine deficiency; Systemic primary carnitine deficiency; Systemic primary carnitine deficiency disease
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Systemic Primary Carnitine Deficiency
Systemic primary carnitine deficiency (CDSP) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. It encompasses a broad clinical spectrum including the following: Metabolic decompensation in infancy typically presenting between age three months and two years with episodes of hypoketotic hypoglycemia, poor feeding, irritability, lethargy, hepatomegaly, elevated liver transaminases, and hyperammonemia triggered by fasting or common illnesses such as upper respiratory tract infection or gastroenteritis. Childhood myopathy involving heart and skeletal muscle with onset between age two and four years. Pregnancy-related decreased stamina or exacerbation of cardiac arrhythmia. Fatigability in adulthood. Absence of symptoms. The latter two categories often include mothers diagnosed with CDSP after newborn screening has identified low carnitine levels in their infants.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Ayman W El-Hattab
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Available tests

123 tests are in the database for this condition.

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Clinical tests (122 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: CDSP, OCTN2, SLC22A5
    Summary: solute carrier family 22 member 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased C0, Carnitine Uptake Defect (CUD; Primary Carnitine Deficiency), 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Carnitine Uptake Defect: Decreased C0 (Free Carnitine), 2022

Molecular resources

Consumer resources

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