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Primary/Systemic Carnitine Deficiency

Primary/systemic carnitine deficiency (PCD) is a disorder of fatty acid oxidation caused by defective carnitine transport. Patients may present as infants with nonketotic hypoglycemia, hypotonia, Reye syndrome or sudden infant death or later in life with cardiomyopathy (characteristically dilated) or muscle weakness. Different types of presentation have been observed within an individual family. Diet may [...]

+ Mutation-specific testing   + Prenatal testing

Primary/systemic carnitine deficiency (PCD) is a disorder of fatty acid oxidation caused by defective carnitine transport. Patients may present as infants with nonketotic hypoglycemia, hypotonia, Reye syndrome or sudden infant death or later in life with cardiomyopathy (characteristically dilated) or muscle weakness. Different types of presentation have been observed within an individual family. Diet may contribute to the pathogenesis of this disorder. Delayed diagnosis has been reported as common. PCD can be identified by MS/MS based newborn screening and positive newborn screening results have also occurred in infants of mothers affected with PCD even though the mother has had mild or no symptoms. Patients respond promptly to carnitine supplementation, with correction of metabolic abnormalities, and improvement in skeletal myopathy and cardiomyopathy reported. However, developmental delay due to hypoglycemia that occurred prior to treatment usually persists.

+ Mutation-specific testing   + Prenatal testing

Tests Available

SLC22A5 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
SLC22A5
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • To confirm maternal PCD
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
365
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
List Price:
$1,270.00
Billing Information:
View Billing Policy
ICD Codes:
  • 796.6: Abnormal findings on neonatal screening
  • 277.81: Primary carnitine deficiency

REFERENCES

  1. Schimmenti et al., (2007) Mol Genet Metab 90:441-445
  2. Amat di San Filippo et al., (2006) Hum Mutat 27(6):513-523
  3. Lamhonwah et al., (2002) Am J Med Genet 111:271-284
  4. Wang et al., (2001) Genet Med 3(6):387-392
  5. Wang et al., (2000) Hum Mutat 16:401-407
  6. Li et al., (2010) Hum Mutat 31:E1632-51
  7. Tein et al., (1990) Ped Res 28:247-255
  8. Waber et al.,(1982) J Ped 101:700-705
  9. Treem et al., (1988) NEJM 319:1331-1336

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