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Genetic Disorder Project: Galactosemia
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Galactosemia
Understanding Genetic Disorders
Mya Mack-W
Pd 4
Galactosemia is a metabolic genetic disorder that affects how an individual body is able to process a simple sugar called galactose. When people with galactosemia digest foods containing galactose, the undigested sugars build up in the blood.
What is Galactosemia?
The impaired ability to process and break down galactose causes the inability to produce energy.
Lactose sugar
Galactose is a monosaccharide sugar apart of a larger sugar called lactose.
What is Galactose?
Many baby formulas contain galactose in them, which is why infants and babies with galactosemia are the most affected.
"The Leloir Pathway"
Metabolism of Galactose
The GALK, GALT, and GALE genes help make the enzymes that process galactose and take part in the metabolic process of the Leloir Pathway. The GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE or GALT enzyme is the enzyme that converts ingested galactose to glucose in order for it be metabolized to energy.
lactose
Galactosemia Type 2 (Galactosemia Deficiency)
Types of Galactosemia
Classic Galactosemia (Type 1)
Galactosemia Type 3
Genetic changes in the three genes cause different severity and types of symptoms. Mutations in GALT, GALK1, and GALE genes cause galactosemia.
The GALT gene on chromosome 9p13 codes for for making an enzyme to metabolize galactose.
The Causes
Mutations in this gene cause classic galactosemia.
1 in 30,000 to 60,000 newborns have this.
GALT gene
It is an autosomal recessive inheritance.
Inheritance
Galactosemia is inherited. Both copies in the gene of the cell has the mutation. The parents typically do not show symptoms and are carriers.
GALK1 gene
Galactosemia Type 2
Galactosemia type 2 causes deficiencies in the GALK1 gene (chromosome 17), affecting the production of the galactokinase 1 enzyme.
This enzyme is supposed to help process galactose.
1 in 100,000 newborns have this.
While very rare, the mutation affects the GALE gene (chromosome 1) which helps make the enzyme UDP-galactose-4-epimerase.
Galactosemia Type 3
GALE gene
Chromosome 1
Symptoms
Early Signs
- Lethargy (Lack of energy)
- Jaundice
- Vomiting
- Cataracts
- Refusal to Eat
- Prone to Infections
Symptoms
Treatment
Organizations
This organization is a leading patient organization for Inherited Metabolic Disorders in order to support families in having information, research, and awareness of rare metabolic disorders such as galactosemia.
Metabolic Support UK
Organizations
Galactosemia Foundation
This foundation specifically focuses on helping those with galactosemia and their families by providing support, research, connections with clinicians and researchers for galactosemia, and a community to advocate for those affected.
Treatment
Infants and children with galactosemia should have a lactose restricted diet or calcium supplements.
Affected babies must have lactose free formulas.
Speech therapy may also be given for children with childhood apraxia of speech or dysarthria (motor skill deficits).
Other appropriate treatments could also be used to control infections in infants.
Health problems connected/caused by galactosemia could be fatal if undiagnosed and untreated.
More Serious Symptoms
- Sepsis
- Kidney/Liver Failure
- Abnormal Bleeding
- Development Difficulties or Disabilities (Speech, Motor Skills, Learning)
- Brain Swelling
- Premature Ovarian Failure (Females)
Symptoms (continued)
A case of galactosemia misdiagnosed as cow’s milk intolerance
Case Study
An infant baby to have been given lactose formula after birth. The infant girl received jaundice, had recurrent vomiting, and abdominal distention (anorexia) the first few 7 days, showing signs of lactose intolerance.
She was screened for metabolic disorders but the results came back normal. When given lactose-free formula until the age of 16 days old, the infant completely recovered.
However, when reintroduced to the standard formula, the symptoms similar to the symptoms of lactose intolerance returned.
She returned back to the hospital around 3 months and was screened but had negative results.
Despite being discharged, the baby returned at 8 months old and when given a formula containing lactose, she had symptoms once again. A screening was done and it was diagnosed that she had galactosemia.
References
Della Casa, R., Ungaro, C., Acampora, E., Pignata, C., Vajro, P., Salerno, M., Santamaria, F., & Parenti, G. (2012). A case of galactosemia misdiagnosed as cow's milk intolerance. Italian journal of pediatrics,38, 47. https://doi.org/10.1186/1824-7288-38-47
Genetic and Rare Diseases Information Center. “Galactosemia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program.” Nih.gov, 2018, https://rarediseases.info.nih.gov/diseases/2424/galactosemia.
MedlinePlus [Internet]. Bethesda (MD): National Library of Medicine (US); [updated 2020 Jun 24]. Galactosemia; [reviewed 1 August 2015; cited 2022 May 24] Available from: https://medlineplus.gov/genetics/condition/galactosemia/
NORD. (2015). Galactosemia - NORD (National Organization for Rare Disorders). NORD (National Organization for Rare Disorders); NORD. https://rarediseases.org/rare-diseases/galactosemia/
Protein Homeostasis Diseases. (2020). Leloir Pathway - an overview | ScienceDirect Topics. Www.sciencedirect.com. https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/leloir-pathway
Timson, D. J. (2016). The molecular basis of galactosemia — Past, present and future. Gene, 589(2), 133–141. https://doi.org/10.1016/j.gene.2015.06.077
Pictures
References (continued)
1MD NutritionTM Editorial Staff. “Galactosemia: Causes, Symptoms, Treatments, and Complications.” 1MD, 21 Sept. 2021, 1md.org/health-guide/heart/disorders/galactosemia.
EveryLife Foundation for Rare Diseases. “EveryLife Foundation for Rare Diseases.” EveryLife Foundation for Rare Diseases, everylifefoundation.org/. Accessed 5 June 2022.
Galactosemia Foundation. (2019). Galactosemia Foundation. Galactosemia Foundation. http://www.galactosemia.org/
Gluzman, Nelli. “Jaundice in Newborns: Treatment and Care at Home.” EMediHealth, 18 Sept. 2019, www.emedihealth.com/child-health/conditions-and-symptoms/neonatal-jaundice.
NutrientsReview. “What Is Galactose? Definition, Foods, Metabolism.” Nutrients Review, 5 Aug. 2015, www.nutrientsreview.com/carbs/monosaccharides-galactose.html.
POSTERUSER. “Galactosemia – Medical Pharma News | Modern Health and Technology News.” Medical Pharma News, 22 Mar. 2019, medicalpharmanews.com/en/galactosemia-2/.
Prasad, R., et al. “Biochemistry , Molecular Biology and Molecular Genetics of Galactosemia.” Www.semanticscholar.org, 2013, www.semanticscholar.org/paper/Biochemistry-%2C-molecular-biology-and-molecular-of-Prasad-Singh/ce200d41b0bfeddb78d5e9cde1eaf0a4491268e5/figure/4.
Wikipedia Contributors. “Chromosome 9.” Wikipedia, 3 Mar. 2022, en.wikipedia.org/wiki/Chromosome_9.
Wikipedia Contributors. (2018, December 14). Chromosome 17. Wikipedia; Wikimedia Foundation. https://en.wikipedia.org/wiki/Chromosome_17
Wikipedia Contributors. (2021, December 7). Chromosome 1. Wikipedia. https://en.wikipedia.org/wiki/Chromosome_1
---. “Galactokinase.” Wikipedia Contributors, 5 Feb. 2022, en.wikipedia.org/wiki/Galactokinase.
---. “UDP-Glucose 4-Epimerase.” Wikipedia Contributors, 27 Mar. 2022, en.wikipedia.org/wiki/UDP-glucose_4-epimerase.