D-bifunctional protein deficiency associated with drug resistant infantile spasms.
Brain Dev
; 29(1): 51-4, 2007 Jan.
Article
in En
| MEDLINE
| ID: mdl-16919904
ABSTRACT
Peroxisomal disorders appear with a frequency of about 15000 in newborns. Peroxisomal D-bifunctional protein (D-BP), encoded by the HSD17B4 gene (gene ID 3294; locus tag HGNC5213, chromosome 5q2; official symbol HSD17B4; name hydroxysteroid (17-beta) dehydrogenase; gene type protein coding) (OMIM *601860), comprises an 80 kDa multifunctional enzyme involved in peroxisomal beta-oxidation of certain fatty acids and the synthesis of bile acids. Its deficiency causes a very severe, Zellweger-like clinical phenotype and most patients die within the first year of life. In this paper, we report a case of D-BP deficiency in a patient with two heterozygous trinucleotide deletions (233_235 del AAG and 824_826 del AGA) in the HSD17B4 gene. The patient suffered from a peculiar epileptic phenotype (i.e. a West syndrome with a "modified hypsarrhythmic pattern"--Hrachovy et al. Epilepsia 1984;25317-25), clinically appearing as drug-resistant asymmetric spasms. Vigabatrin seemed the most effective among the antiepileptic drugs. The patient died at the age of 23 months owing to respiratory complications. To date, only a few patients with D-BP deficiency have been described in the literature. This case adds to our knowledge of the clinical presentation of bifunctional protein deficiency.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spasms, Infantile
/
Drug Resistance
/
Genetic Predisposition to Disease
/
Hydro-Lyases
/
17-Hydroxysteroid Dehydrogenases
Type of study:
Etiology_studies
/
Risk_factors_studies
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
Brain Dev
Year:
2007
Document type:
Article
Affiliation country:
Italy
Publication country:
HOLANDA
/
HOLLAND
/
NETHERLANDS
/
NL
/
PAISES BAJOS
/
THE NETHERLANDS