Professional
Technical
In the Industry Vocabulary Test
MLD
Also written as: MLD — Metachromatic leukodystrophy
Metachromatic leukodystrophy, a lysosomal storage disorder that may be included in expanded newborn screening programs.
Full Definition
Metachromatic leukodystrophy is caused by deficiency of arylsulfatase A enzyme, leading to accumulation of sulfatides in the nervous system. The condition causes progressive demyelination and neurodegeneration. While not yet universally screened, pilot programs use enzyme activity measurement on dried blood spots. Early detection enables consideration of hematopoietic stem cell transplantation before symptom onset in late-infantile forms.
Usage
Usage note: Capitalize the full form; use MLD acronym in clinical documentation after first use.
In Context
- "Arylsulfatase A activity was below the screening cutoff, suggesting possible MLD." — laboratory report
- "MLD screening is being piloted in select states before potential RUSP addition." — policy briefing
Also known as
arylsulfatase A deficiency
metachromatic leukodystrophy
Don't confuse with
Krabbe disease
X-linked adrenoleukodystrophy