Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.1.1.69 (BMT)
 2,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reported a case of adolescent type adrenoleukodystrophy. A 20-year old man noticed slight hemiparesis on his right side. After admission, high level of serum VCLFA and ACTH and a point mutation in ALDP codon 606 were recognized along with white matter lesions in the left medulla, basal ganglia, splenium of the corpus callosum on brain MRI. Then we diagnosed the patient as having adolescent type adrenoleukodystrophy. We started Lorenzo's oil and seaching for BMT donor. Six months later, he received allo-BMT at our hospital. His clinical symptoms gradually deteriorated during waiting allo-BMT, and just before allo-BMT, right hemiparesis, gait disturbance, exaggerated deep tendon reflexes on his right side, right lower quadrantanopia and mild cognitive deterioration. Two months after allo-BMT, gait disturbance and right hemiparesis were alleviated. We also observed improvement of abnormal findings on brain MRI and magnetic stimulation. We believed that allo-BMT is effective for the treatment of adolescent type adrenoleukodystrophy.
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PMID:[A case of adolescent adrenoleukodystrophy with clinical improvement after allogeneic bone marrow transplantation (allo-BMT)]. 1556 81