Publications by authors named "Murtaza Ali Gova"
PAEDIATRIC CASE OF 3-METHYLCROTONYLGLYCINURIA WITH ENCEPHALOPATHY: A CASE REPORT FROM PAKISTAN.
J Ayub Med Coll Abbottabad
November 2024
Article Synopsis
- - 3-Methylcrotonylglycinuria is a genetic metabolic disorder caused by a deficiency of 3-Methylcrotonyl-CoA carboxylase, affecting about 1 in 2400 to 1 in 6800 individuals.
- - The condition can be asymptomatic or cause serious symptoms like fever, seizures, and altered consciousness, indicating a "metabolic crisis."
- - This case report focuses on a 4.5-month-old male patient's presentation of 3-MCG to emphasize the need for prompt diagnosis and treatment.