"Oxoprolinuria" Pronounce,Meaning And Examples
"Oxoprolinuria" Natural Recordings by Native Speakers
"Oxoprolinuria" Meaning
Oxoprolinuria is a rare genetic disorder caused by a deficiency of the enzyme delta-1-pyrroline-5-carboxylate synthase, which is responsible for converting the amino acids proline and ornithine into their corresponding carbamoyl precursors. This leads to a buildup of oxoprolin (pyrroline-5-carboxylate) in the urine, resulting in oxoprolinuria. The disorder often presents with symptoms such as intellectual disability, seizures, and a tendency to develop kidney stones.
"Oxoprolinuria" Examples
Oxoprolinuria
Oxoprolinuria is a rare genetic disorder characterized by an inability to synthesize the amino acid pyroglutamate (5-oxoproline).
Usage Examples:
1. Medical diagnosis
In a recent study, researchers identified a new case of oxoprolinuria in a 2-year-old child, highlighting the importance of prompt diagnosis and treatment in preventing long-term complications.2. Genetic research
The genetic mutation responsible for oxoprolinuria was discovered by a team of scientists using advanced sequencing techniques, providing new insights into the underlying causes of this rare disorder.3. Medical journal article
A review of the existing literature on oxoprolinuria revealed a significant lack of research on the disease's symptoms and treatment options, emphasizing the need for further study and collaboration.4. Academic paper
The authors of this study propose a new screening protocol for oxoprolinuria, which they claim is more accurate and efficient than existing methods, with potential implications for early diagnosis and intervention.5. Medical news report
A breakthrough in the treatment of oxoprolinuria was announced yesterday, with researchers reporting promising results from a clinical trial using a novel enzyme replacement therapy."Oxoprolinuria" Similar Words
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Oxoglutarate
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Oxolinic
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Oxonians
Oxonians refers to people from Oxford, a city in south-east England, or individuals who have attended Oxford University, one of the most prestigious universities in the world.
Oxonium
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Oxotremorine
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Oxyacanthous
Oxyacetic
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Oxyacetylene
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Oxyacid
Oxyanion
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