Podcast
Questions and Answers
What condition is characterized by self-mutilation, intellectual disability, and elevated uric acid levels?
What condition is characterized by self-mutilation, intellectual disability, and elevated uric acid levels?
Lesch-Nyhan syndrome
In Lesch-Nyhan syndrome, what specific behavior is often observed in affected individuals due to the genetic defect?
In Lesch-Nyhan syndrome, what specific behavior is often observed in affected individuals due to the genetic defect?
Self-mutilation
What laboratory finding is a key diagnostic indicator of Lesch-Nyhan syndrome?
What laboratory finding is a key diagnostic indicator of Lesch-Nyhan syndrome?
Elevated uric acid
Which enzyme deficiency directly leads to the accumulation of uric acid in Lesch-Nyhan syndrome?
Which enzyme deficiency directly leads to the accumulation of uric acid in Lesch-Nyhan syndrome?
Besides elevated uric acid, name one other typical symptom observed in infants with Lesch-Nyhan syndrome.
Besides elevated uric acid, name one other typical symptom observed in infants with Lesch-Nyhan syndrome.
Flashcards
Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), leading to a buildup of uric acid.
PRPP Amidotransferase
PRPP Amidotransferase
An enzyme that converts PRPP into phosphoribosylamine, a committed step in purine synthesis.
Lesch-Nyhan Symptoms
Lesch-Nyhan Symptoms
Neurological and behavioral abnormalities, self-mutilation, gout, intellectual disability, elevated uric acid.
Hypotonia
Hypotonia
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High Uric Acid
High Uric Acid
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Study Notes
- A 6-month-old male infant presents with concerns of developmental delay.
- The patient has regular feeding habits and recent mild upper respiratory infection.
- The mother reports the child is less interactive compared to her other children at the same age.
- Physical examination reveals delayed development and hypotonia.
- Two years later, the child exhibits involuntary movements and self-injurious behavior (biting lips and fingers).
- Lab results indicate elevated blood uric acid levels.
- The question asks which enzyme is likely to have increased activity to compensate for the genetic defect.
- Phosphoribosyl pyrophosphate amidotransferase activity is likely increased.
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Description
A child presents with developmental delay, hypotonia, and elevated uric acid. Two years later, involuntary movements occur. The genetic defect is likely compensated for by increased phosphoribosyl pyrophosphate amidotransferase activity.
