metachromatic leukodystrophy

名词 n.
中文释义

英文释义

名词 n.
  1. Any of a range of genetic metabolic disorders caused by defective genes for arylsulfatase enzymes,
    — Metachromatic leukodystrophy is an autosomal recessive disorder that is usually caused by mutations in the arylsulfatase A (ARSA) gene on chromosome 22q13.31.[…]Several molecular forms of arylsulfatase A exist and may account for the different phenotypes of metachromatic leukodystrophy.
  2. Any of a range of genetic metabolic disorders caused by defective genes for arylsulfatase enzymes, especially, a deficiency in the enzyme ARSA (arylsulfatase A).; especially, a deficiency in the enzyme ARSA (arylsulfatase A).

词形变化

metachromatic leukodystrophies plural

词汇关系

近义词
MLD ARSA deficiency arylsulfatase A deficiency
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