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Galactosemia

Galactosemia: Introduction

Galactosemia: Galactosemia, a rare genetic disorder, hampers the body's ability to process the sugar galactose. An infant with this disorder may appear ... more about Galactosemia.

Galactosemia: Any of a number of recessive disorders that cause accumulation of galactose in the blood from an inability to metabolise galactose. More detailed information about the symptoms, causes, and treatments of Galactosemia is available below.

Symptoms of Galactosemia

Home Diagnostic Testing

Home medical testing related to Galactosemia:

Wrongly Diagnosed with Galactosemia?

Galactosemia: Related Patient Stories

Galactosemia: Deaths

Read more about Deaths and Galactosemia.

Types of Galactosemia

Galactosemia: Complications

Read more about complications of Galactosemia.

Causes of Galactosemia

Read more about causes of Galactosemia.

Disease Topics Related To Galactosemia

Research the causes of these diseases that are similar to, or related to, Galactosemia:

Misdiagnosis and Galactosemia

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Galactosemia: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Galactosemia: Animations

Research about Galactosemia

Visit our research pages for current research about Galactosemia treatments.

Clinical Trials for Galactosemia

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Galactosemia include:

Statistics for Galactosemia

Galactosemia: Broader Related Topics

Galactosemia Message Boards

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User Interactive Forums

Read about other experiences, ask a question about Galactosemia, or answer someone else's question, on our message boards:

Article Excerpts about Galactosemia

Galactosemia, a rare genetic disorder, hampers the body's ability to process the sugar galactose. An infant with this disorder may appear normal at birth, but after a few days or weeks of drinking milk (which contains galactose), the child may begin to vomit, lose weight, and develop cataracts. The liver may fail to release stored glycogen into the blood, triggering hypoglycemia. Removing milk from the diet is the usual treatment. (Source: excerpt from Hypoglycemia: NIDDK)

Definitions of Galactosemia:

A genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth - (Source - WordNet 2.1)

Galactosemia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Galactosemia, or a subtype of Galactosemia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Galactosemia as a "rare disease".
Source - Orphanet

 

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