Methylmalonic acidemia

A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.

Disease Alternative Name

methylmalonic aciduria
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Kalaburagi ,Karnataka
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Dhanvantri Children Hospital

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Mrmc

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Kerala Institute of Medical Sciences

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Mayo Hospital

Emergency and Typical Case

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B.U.M.S

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NIMS Medical College

Medical Student

Nims Medical College

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