An infant presented with mental retardation,regression of motor skills,problems with feeding,impaired head control,macrocephaly.MRI Of the infant is given below.what is the most probable diagnosis?
Deficiency of aspaoacylase leads to Canavan disease. It is an autosomalrecessive disorder, which leads to excessive excretion of N-acetylaspaic acid in the urine. It is characterized by leukodystrophy. Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Reference: Harpers illustrated biochemistry 30th edition
Hawkinsinuria
Canavans disease
Oasthouse syndrome
Hanup disease
Metabolism of protein and amino acid