An infant presents with severe muscle weakness, hypotonia, and respiratory distress shortly after birth. | Medibuddy
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6th February 2024

An infant presents with severe muscle weakness, hypotonia, and respiratory distress shortly after birth.

An infant presents with severe muscle weakness, hypotonia, and respiratory distress shortly after birth. Lab tests show elevated levels of citrulline and ammonia in the blood. 

What is the likely diagnosis?

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