Primary carnitine deficiency

Symptoms of Primary carnitine deficiency

The following features are indicative of Primary carnitine deficiency:
  • encephalopathy
  • cardiomyopathy
  • confusion
  • vomiting
  • muscle weakness
  • hypoglycemia
  • fatigability
It is possible that Primary carnitine deficiency shows no physical symptoms and still is present in a patient.

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Common Causes of Primary carnitine deficiency

The following are the most common causes of Primary carnitine deficiency:
  • mutations in the SLC22A5 gene (Solute Carrier Family 22 Member 5)

Prevention of Primary carnitine deficiency

Yes, it may be possible to prevent Primary carnitine deficiency. Prevention may be possible by doing the following:
  • have frequent feeding
  • eat balanced diet

Occurrence of Primary carnitine deficiency

Number of Cases

The following are the number of Primary carnitine deficiency cases seen each year worldwide:
  • Not common between 50K - 500K cases

Common Age Group

Primary carnitine deficiency most commonly occurs in the following age group:
  • Aged between 1-5 years

Common Gender

Primary carnitine deficiency can occur in any gender.

Lab Tests and Procedures for Diagnosis of Primary carnitine deficiency

The following lab tests and procedures are used to detect Primary carnitine deficiency:
  • Newborn screening: To detect low carnitine levels in infants
  • Molecular genetic testing: To detect genetic mutation

Complications of Primary carnitine deficiency if untreated

Yes, Primary carnitine deficiency causes complications if it is not treated. Below is the list of complications and problems that may arise if Primary carnitine deficiency is left untreated:
  • can be fatal

Self-care for Primary carnitine deficiency

The following self-care actions or lifestyle changes may help in the treatment or management of Primary carnitine deficiency:
  • eat low-fat diet
  • eat high carbohydrate diet

Alternative Medicine for Treatment of Primary carnitine deficiency

The following alternate medicine and therapies are known to help in the treatment or management of Primary carnitine deficiency:
  • Intake of oral L-carnitine supplementation: Improve symptoms of disease

Patient Support for Treatment of Primary carnitine deficiency

The following actions may help Primary carnitine deficiency patients:
  • Support and advocacy groups: Help to connect with other patients and families and provide valuable services

Last updated date

This page was last updated on 9/04/2019.
This page provides information for Primary carnitine deficiency.

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