Article
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
Orphanet journal of rare diseases - 22 Nov 2012
McMillan Hugh J, Worthylake Thea, Schwartzentruber Jeremy, Gottlieb Chloe C, Lawrence Sarah E, Mackenzie Alex, Beaulieu Chandree L, Mooyer Petra A W, Wanders Ronald J A, Majewski Jacek, Bulman Dennis E, Geraghty Michael T, Ferdinandusse Sacha, Boycott Kym M
Abstract excerpt
BACKGROUND: D-bifunctional protein (DBP) deficiency is typically apparent within the first month of life with most infants demonstrating hypotonia, psychomotor delay and seizures. Few children survive beyond two years of age. Among patients with prolonged survival all demonstrate severe gross motor delay, absent language development, and severe hearing and visual impairment. DBP contains three catalytically...
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