Galactosemia primary prevention

Jump to navigation Jump to search

Galactosemia Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Galactosemia from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Galactosemia primary prevention On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Galactosemia primary prevention

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Galactosemia primary prevention

CDC on Galactosemia primary prevention

Galactosemia primary prevention in the news

Blogs on Galactosemia primary prevention

Directions to Hospitals Treating Galactosemia

Risk calculators and risk factors for Galactosemia primary prevention

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]

Overview

Preventive strategies of galactosemia are primarily aimed at early detection through screening and prompt intervention.

Primary Prevention

Galactosemia is an inherited autosomal recessive disorder of galactose metabolism. A single allele inherited from any one parent is not sufficient to cause the condition. Offspring born to parents who are both carriers run a 25% risk of contracting the disease[1]. Due to the strong genetic basis of the disease, primary prevention is not widely adopted for galactosemia. However, consanguineous marriages have been shown to increase the risk of the disorder and should be avoided and prompt screening done for those with a positive family history or high risk[2].

References

  1. HUGH-JONES K, NEWCOMB AL, HSIA DY (1960). "The genetic mechanism of galactosaemia". Arch Dis Child. 35: 521–8. doi:10.1136/adc.35.184.521. PMC 2012648. PMID 13716617.
  2. Senemar S, Ganjekarimi A, Senemar S, Tarami B, Bazrgar M (2011). "The prevalence and clinical study of galactosemia disease in a pilot screening program of neonates, southern iran". Iran J Public Health. 40 (4): 99–104. PMC 3481732. PMID 23113108.

Template:WH Template:WS