| D012202 |
Reye Syndrome |
A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism. |
Fatty Liver with Encephalopathy,Reye Syndrome, Adult,Reye's Syndrome,Reye's Syndrome, Adult,Reye's-Like Syndrome,Reye-Johnson Syndrome,Reye-Like Syndrome,Adult Reye Syndrome,Adult Reye's Syndrome,Reye Johnson Syndrome,Reye Like Syndrome,Reye's Like Syndrome |
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| D020163 |
Ornithine Carbamoyltransferase Deficiency Disease |
An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50) |
OTC Deficiency,Ornithine Transcarbamylase Deficiency,Ornithine Transcarbamylase Deficiency Disease,Deficiency Disease, Ornithine Carbamoyltransferase,Deficiency Disease, Ornithine Transcarbamylase,Ornithine Carbamoyltransferase Deficiency,Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To,Deficiencies, OTC,Deficiencies, Ornithine Transcarbamylase,Deficiency, OTC,Deficiency, Ornithine Transcarbamylase,OTC Deficiencies,Ornithine Transcarbamylase Deficiencies |
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