argininosuccinic aciduria वाक्य
उदाहरण वाक्य
मोबाइल
- Complications from argininosuccinic aciduria may include developmental delay and mental retardation.
- One mutation in patients with argininosuccinic aciduria occurs when glutamine 286 is mutated to arginine.
- He also defined new amino-acid diseases such as various forms of Fanconi syndrome, Hartnup disease, argininosuccinic aciduria and homocystinuria.
- In argininosuccinic aciduria, the enzyme argininosuccinate lyase, involved in the conversion of arginino succinate to arginine within the urea cycle, is damaged or missing.
- In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as argininosuccinic aciduria, Menkes'kinky hair syndrome, Netherton's syndrome, hypothyroidism, or trichothiodystrophy.
- An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly controlled breathing rate or body temperature, experience seizures or unusual body movements, or go into a coma.
- There is biochemical evidence that shows rises in ammonia can inhibit glutaminase and therefore limit the rate of synthesis of neurotransmitters such as glutamate, which can explain the developmental delay in argininosuccinic aciduria patients.
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