3-Methylglutaconic Aciduria, Type Iv (MGCA4)

3-Methylglutaconic Aciduria, Type Iv(来自ICD-11)
别称:
3-Methylglutaconic Aciduria Type 4
Mga4
3-Methylglutaconic Aciduria Type Iv
Mgca4
Mga, Type Iv
Mga Type Iv
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3-Methylglutaconic Aciduria, Type Iv, also known as 3-methylglutaconic aciduria type 4, is related to 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome and mitochondrial dna depletion syndrome 4a. An important gene associated with 3-Methylglutaconic Aciduria, Type Iv is SERAC1 (Serine Active Site Containing 1). Affiliated tissues include eye and liver, and related phenotypes are intellectual disability and seizure
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参考文献
MALACARDS
AR
Newborn
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12
77
3

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