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Metachromatic leukodystrophy

AR, deficiency of Arylsulfatase A --> accumulation of cerebroside sulfate

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Final answer:

The student is asking about Metachromatic leukodystrophy, a genetic metabolic disorder caused by the deficient enzyme Arylsulfatase A, resulting in the buildup of cerebroside sulfate. This condition is related to problems in sulfur amino acid metabolism, similar to diseases like cystinosis and orotic aciduria. Treatments for such genetic disorders are complex and often expensive.

Step-by-step explanation:

The question mentions Metachromatic leukodystrophy, which is a rare genetic metabolic disorder. It is characterized by the deficiency of the enzyme Arylsulfatase A, leading to the accumulation of cerebroside sulfate. This disorder is one example of a broader class of disorders that involve the metabolism of sulfur-containing amino acids.

For example, geneticists study cystinosis, a storage disease where cystine crystals accumulate in various organs due to impaired lysosomal function. Similarly, disorders like orotic aciduria involve issues in nucleotide synthesis, further showcasing how crucial metabolic pathways are tied to proper development and function. It's essential to understand the genetic basis of these diseases to develop treatments.

Current treatments for disorders like adrenoleukodystrophy involve Lorenzo's oil and potential gene therapy, although these are costly and can be controversial.

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