Podcast
Questions and Answers
What is the main genetic inheritance pattern of hereditary tyrosinemia?
What is the main genetic inheritance pattern of hereditary tyrosinemia?
- X-linked dominant
- Autosomal recessive (correct)
- Autosomal dominant
- Mitochondrial inheritance
Which enzyme deficiency is associated with hereditary tyrosinemia?
Which enzyme deficiency is associated with hereditary tyrosinemia?
- Tyrosine aminotransferase
- Fumarylacetoacetate hydrolase (correct)
- Phenylalanine hydroxylase
- Cystathionine beta-synthase
What is a common symptom of acute tyrosinemia in infants?
What is a common symptom of acute tyrosinemia in infants?
- Excessive growth
- Clear skin
- Swelling of the legs (correct)
- High fever
What complications are typically observed in chronic tyrosinemia?
What complications are typically observed in chronic tyrosinemia?
What is the likely outcome for untreated acute tyrosinemia?
What is the likely outcome for untreated acute tyrosinemia?
Flashcards
Hereditary Tyrosinemia
Hereditary Tyrosinemia
A genetic disorder affecting the body's ability to break down tyrosine, leading to the accumulation of toxic substances.
Acute Tyrosinemia
Acute Tyrosinemia
A severe form of tyrosinemia that usually develops within the first few months of life.
Chronic Tyrosinemia
Chronic Tyrosinemia
A milder form of tyrosinemia that develops in childhood and often progresses slowly.
Fumarylacetoacetate Hydrolase (FAH)
Fumarylacetoacetate Hydrolase (FAH)
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Toxic Metabolic Products
Toxic Metabolic Products
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Study Notes
Tyrosinemia Overview
- Hereditary tyrosinemia is an inherited metabolic disorder (IEM).
- It's an autosomal recessive condition.
- It's characterized by the absence of the enzyme fumarylacetoacetate hydrolase (FAH).
- This absence leads to a buildup of toxic metabolites in various tissues, damaging the liver and kidneys.
Acute Tyrosinemia
- Infants with acute tyrosinemia may exhibit poor weight gain.
- They often have an enlarged liver and spleen.
- Abdominal distention and leg swelling are common.
- There's an increased risk of bleeding episodes (e.g., nosebleeds).
- Without liver transplantation, death frequently occurs between 3 and 9 months of age.
Chronic Tyrosinemia
- Children with chronic tyrosinemia also have an enlarged liver and spleen.
- Abdominal distention with fluid is common.
- Poor weight gain, vomiting, and diarrhea are frequent symptoms.
- Cirrhosis is a typical development.
- Liver transplantation is often necessary.
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