A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.

We report on ten individuals with a fatal infantile encephalopathy and/or pulmonary hypertension, leading to death before the age of 15 months. Hyperglycinemia and lactic acidosis were common findings. Glycine cleavage system and pyruvate dehydrogenase complex (PDHC) activities were low.

Early mitochondrial dysfunction in an infant with Alexander disease.

Alexander disease is a neurodegenerative disorder characterized by macrocephaly and progressive demyelination with frontal lobe preponderance. The infantile form, the most frequent variant, appears between birth and 2 years of age and involves a severe course with a rapid neurologic deterioration. Although magnetic resonance imaging is useful for diagnosis, currently diagnosis is confirmed by the finding of missense mutation in the glial fibrillary acidic protein (GFAP) gene.

Down-regulation of heart HFABP and UCP2 gene expression in diet-induced (cafeteria) obese rats.

Long-term exposure to hypercaloric high fat diet induced marked tissue fatty acid accumulation and may influence cell function. Previous results in our laboratory showed that uncoupling proteins (UCPs) and fatty acid-binding protein (FABP) gene expression are changed in adipose tissue and skeletal muscle tissue in diet-induced (cafeteria) obese animals. The aim of this study was to examine heart FABP (HFABP) and UCP2 gene expressions in dietary obese rats.

Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.

Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric aciduria type I (GA I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by neural degeneration of the caudate and putamen. Studies of metabolite excretion allowed us to categorize 43 GA I Spanish patients into two groups: group 1 (26 patients), those presenting with high excretion of both glutarate and 3-hydroxyglutarate, and group 2 (17 patients), those who might not be detected by routine urine organic acid analysis because glutarate might be normal and 3-hydroxyglutarate only slightly higher than controls. Single-strand conformation polymorphism (SSCP) screening and sequence analysis of the 11 exons and the corresponding intron boundaries of the GCDH gene allowed us to identify 13 novel and 10 previously described mutations.

[Partial complex status epilepticus: diagnostic difficulties].

Introduction And Clinical Case: We present a case of complex partial non convulsive status epilepticus which we think it is very interesting because it caused a challenged diagnostic. The patient, a male of eleven years old had affective symptoms in episodes. They occurred lasted six to eight hours, once or twice a month.

[State of bilateral opercular disorder and pseudobulbar paralysis of late onset in unilateral perisylvian dysplasia].

We come up the case of a six and a half year old girl suffering from right unilateral perisylvian cortical dysplasia who present left spastic hemiparesia, mirror movements and language disorder. She made her epileptic debut at the age of four and a half with myoclonic absences which responded to valproate treatment. At the age of five she began with biopercular status epilepticus shown as pseudobulbar palsy as diffusion of discharges from the dysplasia localization to the contralateral one.

Transient nonketotic hyperglycinaemia: ultrasound, CT and MRI: case report.

We report a case of transient nonketotic hyperglycinaemia in which radiography correlated closely with clinical and biochemical findings. Only 5 patients have been previously described with this transient from of nonketotic hyperglycinaemia. Among the radiographic findings, thinning of the corpus callosum is the most characteristic.

[Non-ketotic hyperglycinemia. Transient neonatal form].

We report a patient with neonatal epilepsy, with no pattern of burst-suppression, secondary to the transient form of nonketotic hyperglycinemia. Biochemical normalization at two weeks of age was followed by a good clinical evolution and neurological normality at one year of age. The patient showed markedly retarded myelination and microcysts in the frontal white matter, both transitory and with subsequent neuroradiological normalization.

[Reversible neuropsychological deterioration associated with valproate].

Valproate (VPA) is indicated for treatment of febrile convulsions (FC) and very infrequently is associated with impairment of cognitive functions. We present a 8 years old girl treated with VPA for FC who manifest a dramatic behavioral and intellectual disorder confirmed by neuropsychological tests. Three weeks after a reduction of VPA dosis we observed a spectacular clinical improvement.