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Summary
BROWN-VIALETTO-VAN LAERE SYNDROME 1
211530
OMIM = Online Medalian Inheritance of Men
97229
20p13
rare
autosomal recessive
symptoms
dysphagia
fasiculations
hearing defect, deafness
hyperreflexia
hypotonia
muscle weakness
neuropathy
onset, child
onset, infant
ophthalmoplegia
peripheral neuropathy
progressive neurologic defect
ptosis (drooping eyelid)
respiratory insufficiency
stridor
laboratory finding
Dicarboxylic acids normal-increasedurine
Ethylmalonic acid normal-increasedurine
Glutaric acid normal-increasedurine
Carnitine normal-decreasedblood, plasma
Acylcarnitine normal-increasedblood, plasma
Literature
Fukami Met al.Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysisPediatr Res592276-2802006
Fluck CEMiller WLP450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasiaCurr Opin Pediatr184435-4412006
Williamson Let al.Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiencyAm J Med Genet A140171797-18032006