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Screening & Prevention >> Newborn Screening >> Fatty Acid Oxidation Disorders >> Carnitine uptake deficiency

Carnitine uptake deficiency

Disorder Category

a fatty acid oxidation disorder

Screening

Finding

decreased C0 and other acylcarnitines

Tested By

tandem mass spectrometry (MS/MS); sensitivity=100% (80% with the first screen only [Nicola Longo, personal communication 2006]); specificity=99.97% [Schulze: 2003]

Names

Carnitine uptake deficiency

CUD

Carnitine uptake defect

Carnitine transporter deficiency

Systemic carnitine deficiency (SCD)

Primary carnitine deficiency

ICD-9

277.81, Primary carnitine deficiency

Overview

Carnitine transporter enzyme deficiency results in urinary carnitine wasting and systemic and intracellular carnitine deficiency. The latter results in an intramitochondrial defect in the beta-oxidation of fatty acids which impairs energy production and causes accumulation of metabolites. The increased reliance on fat metabolism for energy production during prolonged fasting and/or periods of increased energy demands (fever, stress, lack of sleep) may cause metabolic crises in patients with carnitine deficiency.

Prevalence

about 1/250,000 live births; [Schulze: 2003] in Japan, 1/40,000 [Koizumi: 1999]

Inheritance

autosomal recessive

Prenatal Testing

DNA testing and protein analysis by amniocentesis or CVS.

Clinical Characteristics

With treatment prior to metabolic crises, outcomes should be normal. Treatment may reverse pre-existing cardiomyopathy and muscle weakness, but not developmental delay. Without treatment, symptoms may begin between birth and three years of age or, in the myopathic form, symptoms usually begin before seven years and may not include metabolic crisis episodes or hypoglycemia. Some children remain asymptomatic for life.

Inital signs and symptoms may include:
  • poor appetite,
  • vomiting,
  • irritability,
  • lethargy,
  • hypoketotic hypoglycemia,
  • lab findings:
    • anemia,
    • metabolic acidosis, and
    • hypoglycemia.


Subsequent finding include:
  • muscle weakness,
  • cardiomyopathy,
  • hepatomegaly,
  • seizures, and
  • brain injury from hypoglycemia.

Follow-up on positive screening test

Plasma and urine carnitine analysis, transporter analysis and OCTN2 gene sequencing.

Primary care management

Upon notification of the + screen

If the diagnosis is confirmed

  • Educate the family regarding signs, symptoms, and the need for urgent care when the infant becomes ill (see Carnitine uptake deficiency info for parents, STAR-G);
  • Special diet is not required but frequent feedings and avoidance of fasting is important;
  • Oral L-carnitine supplements;
  • For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions.

Specialty Care Management

Initial consultation and ongoing collaboration if the child is affected. A dietician may work with the family to devise an optimal approach to dietary management.

Resources

Links

For Professionals

Carnitine uptake deficiency info for professionals, STAR-G
On the Screening, Technology and Research in Genetics (STAR-G) site, one of a series of Disorder Fact Sheets for Professionals; structured list of information about the condition, with links to more information.

ACT Sheet for Carnitine uptake deficiency from ACMG (pdf 65kb)
Developed by the American College of Medical Genetics (ACMG), includes recommended responses to positive newborn screening test results, diagnostic evaluation, clinical expectations, and sources of additional information. See the ACMG ACT Sheets and Confirmatory Algorithms (link elsewhere on this page) for more info and sheets on other conditions.

ACMG ACT Sheets and Confirmatory Algorithms
The American College of Medical Genetics (ACMG) has developed ACTion (ACT) Sheets and algorithms for responding to positive newborn screening test results. This page contains a table with links to all of the ACT Sheets and related algorithms.

Carnitine uptake deficiency, OMIM
Extensive review of the literature, including clinical features and gene therapy, from the Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University, providing technical information for providers on genetic disorders, links to MEDLINE, and links to other scientific information and sites.

Utah Newborn Screening Program
The site provides information and statistics about the program and related legislation, training for practices, and the conditions screened for.

For Parents

Carnitine uptake deficiency info for parents, STAR-G
From the Screening, Technology and Research in Genetics (STAR-G) site, providing information for parents about carnitine uptake deficiency and links to other sites including parent support groups.

Carnitine uptake deficiency, Genetics Home Reference
Excellent, detailed review aimed at patients and families from the National Library of Medicine's Genetics Home Reference site.

Fatty Oxidation Disorders (FOD) Family Support Group
The FODsupport.org site offers a variety of information for families about fatty acid oxidation disorders, support groups, coping, finances, and links to other sites.

Services

Newborn Screening Programs

Utah Newborn Screening Program, more info...
44 Mario Capecchi Drive
Salt Lake City, UT84114
Phone: 801-584-8256
Fax: 801-536-0966
http://health.utah.gov/newbornscreening

Pediatric Genetics

Metabolic Clinic, more info...
100 Mario Capecchi Drive
Salt Lake City, UT84113
Phone: 801-585-2457
Fax: 585-7252
http://www.ped.med.utah.edu/divisions/divisions.htm

See all Pediatric Genetics services providers (3) in our database.

For other services related to this condition, browse our Services categories or search our database.

Helpful Articles

PubMed search for review articles on carnitine uptake deficiency in the last 3 years.

Authors

Reviewing Author: Nicola Longo MD, PhD, 3/2007
Compiled and edited by: Alfred Romeo RN, PhD, 3/2007
Content Last Updated: 3/2008

Page Bibliography

Koizumi A, Nozaki J, Ohura T, Kayo T, Wada Y, Nezu J, Ohashi R, Tamai I, Shoji Y, Takada G, Kibira S, Matsuishi T, Tsuji A.
Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.
Hum Mol Genet. 1999;8(12):2247-54. PubMed abstract

Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF.
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
Pediatrics. 2003;111(6 Pt 1):1399-406. PubMed abstract
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