Lab Med Online.  2017 Jan;7(1):41-44. 10.3343/lmo.2017.7.1.41.

A Korean Patient with Early Juvenile Form of Metachromatic Leukodystrophy: Biochemical and Molecular Genetic Investigation

• Kim YB
• Park HD
• Choi R
• Lee SY
• Ki CS
• Song J
• Kim JW
• Lee J

• KMID: 2363006
• DOI: http://doi.org/10.3343/lmo.2017.7.1.41

Abstract

Metachromatic leukodystrophy is an inherited lysosomal storage disorder caused by the deficiency of arylsulfatase A activity. The patient in this study, a 5-yr-old girl, presented with progressive psychomotor regression. An MRI image of her brain showed bilateral symmetrical demyelination. The arylsulfatase A activity in her leukocytes was decreased to 8.0 nmol/hr/mg protein (reference range, 25-80 nmol/hr/mg protein). Mutation analysis of ARSA, using PCR and direct sequencing, showed two heterozygote pathogenic variations of c.449C>T (p.Pro150Leu) and c.640G>A (p.Ala214Thr). In summary, we report a Korean patient with an early juvenile form of metachromatic leukodystrophy, who was diagnosed based on her clinical symptoms as well as by using biochemical, radiological, and molecular genetic investigations.

Keyword

Metachromatic leukodystrophy; Arylsulfatase A; ARSA

MeSH Terms

Brain
Cerebroside-Sulfatase
Demyelinating Diseases
Female
Heterozygote
Humans
Leukocytes
Leukodystrophy, Metachromatic*
Magnetic Resonance Imaging
Molecular Biology*
Polymerase Chain Reaction
Cerebroside-Sulfatase

Figure

• 

  Fig. 1. Mutation analysis of ARSA from the patient: c.449C>T (p.Pro-150Leu) and c.640G>A (p.Ala214Thr).

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  Fig. 2. Conservation of the amino acid changed by c.640G>A (p.Ala-214Pro) across different species.

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