D-Bifunctional Protein Deficiency: A Cause of Neonatal Onset Seizures and Hypotonia
نویسندگان
چکیده
منابع مشابه
D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia.
BACKGROUND Peroxisomal disorders are classified in two major groups: (1) peroxisome biogenesis disorders and (2) single peroxisomal enzyme/transporter deficiencies. D-bifunctional protein deficiency (OMIM #261515) is included in this last group of rare diseases and leads to an impaired peroxisomal beta-oxidation. D-bifunctional protein deficiencies are divided into four types based on the degre...
متن کاملZellweger syndrome: A cause of neonatal hypotonia and seizures.
Zellweger syndrome, a paradigm of human peroxisomal disorders is characterized by dysmorphic features, hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, sensorineural deafness and retinal dysfunction. This is a case report of a baby boy born with facial dysmorphism, profound hypotonia, seizures, and hepatomegaly. The diagnosis was not evident initially but only later when ...
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OBJECTIVE To determine the genetic cause of slowly progressive cerebellar ataxia, sensorineural deafness, and hypergonadotropic hypogonadism in 5 patients from 3 different families. METHODS The patients comprised 2 sib pairs and 1 sporadic patient. Clinical assessment included history, physical examination, and brain MRI. Linkage analysis was performed separately on the 2 sets of sib pairs us...
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ژورنال
عنوان ژورنال: Pediatric Neurology
سال: 2015
ISSN: 0887-8994
DOI: 10.1016/j.pediatrneurol.2015.01.007