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Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
High dose riboflavin is a potential treatment for the Brown-Vialetto-Van Laere syndrome as well as for the Fazio Londe syndrome which is considered to be the same disease entity without the deafness.
Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review
- M. F. Silva, C. Aires, I. Tavares de Almeida
- Medicine, BiologyJournal of Inherited Metabolic Disease
- 1 April 2008
The cumulative consequences of VPA therapy in inborn errors of metabolism (IEMs) and the importance of recognizing an underlying IEM in cases of Vpa-induced steatosis and acute liver toxicity are two different concepts that will be emphasized.
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
To determine the underlying defect in HIDS, urine of several patients was analysed and discovered increased concentrations of mevalonic acid during severe episodes of fever, but not between crises, and immunoblot analysis demonstrated a deficiency of MK protein in patient fibroblasts, indicating a protein-destabilizing effect of the mutations.
Diagnosis and management of glutaric aciduria type I – revised recommendations
The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline.
X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update
- P. Barth, F. Valianpour, R. Wanders
- Medicine, BiologyAmerican journal of medical genetics. Part A
- 1 May 2004
The finding of deficient docosahexaenoic acid and arachidonic acid in a proportion of patients with BTHS is reported, the first identified inborn error of metabolism that directly affects cardiolipin, a component of the inner mitochondrial membrane, necessary for proper functioning of the electron transport chain.
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
Analysis of the prevalence of the various mutations among DPD patients has shown that the G→A point mutation in the invariant splice donor site is by far the most common (52%), whereas the other six mutations are less frequently observed.
Clinical and biochemical spectrum of D‐bifunctional protein deficiency
D‐bifunctional protein deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation that causes central nervous system damage and encephalopathy.
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
In presymptomatic children with GDD, the onset of neurological disease can be prevented by vigorous treatment of catabolic crises during illnesses together with carnitine supplementation.
Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases
Diagnosis: hyperphenylalaninemia disorders of neurotransmitter metabolism GABA metabolism defects tyrosinemia, and related disorders lysosomal transport defects purine and pyrimidine disorders peroxisomal disorders.
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
Urine metabolite analysis showed that SCHAD deficiency resulted in specific excretion of 3-hydroxyglutaric acid, which suggests that mitochondrial fatty acid oxidation influences insulin secretion by a hitherto unknown mechanism.