Galactosemia is a rare inherited metabolic disorder that impairs the body's ability to break down the sugar galactose, most commonly caused by deficiency of the enzyme galactose-1-phosphate uridylyltransferase. Because galactose is a component of lactose found in milk, including breast milk, untreated exposure in infancy causes liver damage, cataracts, kidney problems and intellectual disability; the condition is managed with a galactose-free diet begun as early as possible, often after detection through newborn screening programs.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 1 Communicable or Non-communicable Transmission Route First Described Prevalence Band Causative Agent
Causative Agent (category) Sources
1. Wikipedia: ICD-10
WikipediaList of chapters, Chapter IVQuote, List of chapters, Chapter IV
Endocrine, nutritional and metabolic diseases
2. World Health Organization: Noncommunicable diseases (fact sheet)
World Health OrganizationMain Types sectionQuote, Main Types section
The main types of NCDs are cardiovascular diseases (such as heart attacks and stroke), cancers, chronic respiratory diseases (such as chronic obstructive pulmonary disease and asthma) and diabetes.
3. Wikipedia: Galactosemia
Wikipedialead paragraph
Galactosemia (British galactosaemia, from Ancient Greek γάλακτος (galaktos) 'milk' and αίμα (haima) 'blood') is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly.
Lead section, transmission-route statement
Galactosemia (British galactosaemia, from Ancient Greek γάλακτος (galaktos) 'milk' and αίμα (haima) 'blood') is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly.
View the Source 4. Galactosemia (Wikipedia)
Lead sectionQuote, Lead section
Galactosemia (British galactosaemia, from Ancient Greek γάλακτος (galaktos) 'milk' and αίμα (haima) 'blood') is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly.
5. Orphadata (Orphanet): Orphadata epidemiology, ORPHAcode 352
Orphadata (Orphanet)Orphanet epidemiology, ORPHAcode 352Quote, Orphanet epidemiology, ORPHAcode 352
"PrevalenceClass": "1-9 / 100 000", "PrevalenceGeographic": "Europe", "PrevalenceQualification": "Value and class", "PrevalenceType": "Prevalence at birth"
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