A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia
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چکیده
منابع مشابه
A Compound Heterozygous HPD Mutation in an Iranian Patient with Hypertyrosinemia Type III
Background and Aims: Hypertyrosinemia type 3 (HT3) is an inherited error in tyrosine metabolism caused by a mutation in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. Materials and Methods: The proband was one and ha...
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Intrauterine and postnatal longitudinal growth is controlled by a strong genetic component that regulates a complex network of endocrine factors integrating them with cellular proliferation, differentiation and apoptotic processes in target tissues, particularly the growth centers of the long bones. Here we report on a patient born small for gestational age (SGA) with severe, proportionate post...
متن کاملPhenotypic heterogeneity of a compound heterozygous SUCLA2 mutation
As you know, there are many more unanswered questions than there are medicine-based facts in the field of mitochondrial medicine, particularly regarding the pathogenesis of disease and phenotypic expression in our two patients [1]. The most surprising aspect of their illness is the fact that neither manifested mitochondrial DNA depletion in skeletal muscle, yet both had significant myopathy. It...
متن کاملPhenotypic heterogeneity of a compound heterozygous SUCLA2 mutation☆☆☆☆☆☆
CNS involvement Encephalopathy Yes Yes [Lamperti 2012] Dystonia Yes Yes [Carrozza 2016] Spasticity Yes Yes [Carrozza 2016] Choreoathetosis Yes No [Ostergaard 2007] Migraine Yes No No Developmental delay Yes Yes [Carrozza 2016] Irritability Yes No [Lamperti 2012] Hypotonia Yes Yes [Carrozza 2016] Perturbed sleep/wake cycle No Yes No Dysarthria/anarthria Yes Yes [Lamperti 2012] Basal ganglia invo...
متن کاملA compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea
Trimethylaminuria (TMAuria), known as "fish odor syndrome," is a congenital metabolic disorder characterized by an odor resembling that of rotting fish. This odor is caused by the secretion of trimethylamine (TMA) in the breath, sweat, and body secretions and the excretion of TMA along with urine. TMAuria is an autosomal recessive disorder caused by mutations in flavin-containing monooxygenase ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2014
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2014.8