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MCADD Test

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Guidance for primary care clinicians receiving a positive newborn screen result

Other Names

Adrenomyeloneuropathy (AMN)
Cerebral ALD (cALD
)X-linked Adrenoleukodystrophy (X-ALD)

Disorder Category

This should be a dropdown list of the Disorder Categories

Screening

Abnormal Finding

test

Tested By

The first newborn screen tests by tandem mass spectrometry (MS/MS). If levels exceed the cutoff, it is repeated on the same blood spot sample by MS/MS. Then, the second newborn blood spot is tested by liquid chromatography-mass spectrometry (LC-MS).

Description

myelination leading to death. In

Clinical Characteristics

Incidence

Inherritance

Primary Care Management

Next Steps

Confirming the Diagnosis

If the Diagnosis is Confirmed

Referrals & Services

Services for Patients & Families in Utah (UT)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

Resources

Information & Support

Services for Patients & Families in Utah (UT)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

Helpful Articles

PubMed search for articles on spinal cord injuriy in children in the last 3 years.

Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Rehder C, Kishnani PS.
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Am J Med Genet C Semin Med Genet. 2012;160C(1):40-9. PubMed abstract / Full Text

Lozano P, Sullivan SD, Smith DH, Weiss KB.
The economic burden of asthma in US children: estimates from the National Medical Expenditure Survey.
J Allergy Clin Immunol. 1999;104(5):957-63. PubMed abstract

Patient Education

Missing link with id: 1622

Resources for Patients & Families

ACT Sheet for MCADD (C8-C6-C10) (ACMG) (PDF Document 348 KB)

National & Local Support Ogranizations

Fatty Oxidation Disorders (FOD) Family Support Group

Helpful Articals for Patients & Families

[Weissman: 2005]

Books for Patients Families

[Riordan: 2014]

Other

ACT Sheet for MCADD (C8-C6-C10) (ACMG) (PDF Document 348 KB)

Studies

Authors & Reviewers

Initial publication: December 2019; last update/revision: January 2023
Current Authors and Reviewers:
Author: Colin B. Van Orman, MD
Contributing Author: Mindy Tueller, MS, MCHES
Authoring history
2019: first version: Dale-Marie HerringA; Chuck Norlin, MDA
AAuthor; CAContributing Author; SASenior Author; RReviewer