Carnitine Deficiency Questions & Answers

Updated: Mar 20, 2017
  • Author: Fernando Scaglia, MD, FACMG; Chief Editor: Maria Descartes, MD  more...
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Questions & Answers

Overview

What is carnitine deficiency?

What is the pathophysiology of carnitine deficiency?

What is the prevalence of carnitine deficiency in the US?

What is the global prevalence of carnitine deficiency?

What is the mortality and morbidity associated with carnitine deficiency?

What are the racial predilections of carnitine deficiency?

What are the sexual predilections of carnitine deficiency?

Which age groups have the highest prevalence of carnitine deficiency?

Presentation

Which clinical history findings are characteristic of primary carnitine deficiency?

Which clinical history findings are characteristic of muscle carnitine deficiency?

Which clinical history findings are characteristic of secondary carnitine deficiency?

Which physical findings are characteristic of primary carnitine deficiency?

Which physical findings are characteristic of muscle carnitine deficiency?

Which physical findings are characteristic of secondary carnitine deficiency?

What causes primary carnitine deficiency?

What causes muscle carnitine deficiency?

What causes secondary carnitine deficiency?

DDX

What are the differential diagnoses for Carnitine Deficiency?

Workup

What is the role of lab tests in the workup of carnitine deficiency?

What is the role of genetic testing in the workup of carnitine deficiency?

What is the role of imaging studies in the workup of carnitine deficiency?

What is the role of ECG in carnitine deficiency?

How are newborns screened for carnitine deficiency?

What is the role of biopsy in the workup of carnitine deficiency?

Which histologic findings are characteristic of carnitine deficiency?

Treatment

How is carnitine deficiency treated?

Which specialist consultations are beneficial to patients with carnitine deficiency?

Which dietary modifications are used in the treatment of carnitine deficiency?

Which activity modifications are used in the treatment of carnitine deficiency?

Medications

What is the role of medications in carnitine deficiency treatment?

Which medications in the drug class Dietary supplements are used in the treatment of Carnitine Deficiency?

Follow-up

What is included in long-term monitoring of carnitine deficiency?

When is inpatient care indicated for carnitine deficiency?

When is included in inpatient care for carnitine deficiency?

Which medications are used in carnitine deficiency treatment?

When is patient transfer required for carnitine deficiency treatment?

How is carnitine deficiency treated?

What are the possible complications of carnitine deficiency?

What is the prognosis of primary carnitine deficiency?

What is the prognosis of secondary carnitine deficiency?

What is included in patient education about carnitine deficiency?