Assuntos
Doenças em Gêmeos/genética , Raquitismo Hipofosfatêmico Familiar/genética , Transtornos das Habilidades Motoras/genética , Desenvolvimento Infantil , Doenças em Gêmeos/dietoterapia , Raquitismo Hipofosfatêmico Familiar/tratamento farmacológico , Feminino , Humanos , Lactente , Transtornos das Habilidades Motoras/tratamento farmacológicoRESUMO
Very long-chain acyl-CoA dehydrogenase (VLCAD) catalyses the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons. Deficiency of VLCAD activity has been associated with a range of phenotypes, including a severe lethal form presenting in the infantile period and a milder variant with onset in childhood. Varying rates of residual enzyme activity partly explain the heterogeneity in presentations. Here we report the course of disease in a pair of monozygotic twin sisters who were diagnosed in their late forties during an evaluation for rhabdomyolysis and fatigue. Interestingly, the patients' complaints were most severe during puberty and declined significantly after the menopause. The basis for this observation is uncertain, but may be related to hormonally-mediated changes in lipid metabolism that may occur at these times. As metabolic decompensation can be associated with significant morbidity, timely diagnosis of VLCAD deficiency is important. The introduction of appropriate dietary measures (i.e. avoidance of fasting, long-chain fat restriction and supplementation with medium-chain triglycerides) greatly reduces the likelihood of complications.
Assuntos
Acil-CoA Desidrogenase de Cadeia Longa/deficiência , Doenças em Gêmeos/enzimologia , Erros Inatos do Metabolismo Lipídico/enzimologia , Gêmeos Monozigóticos , Progressão da Doença , Doenças em Gêmeos/diagnóstico , Doenças em Gêmeos/dietoterapia , Feminino , Humanos , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/dietoterapia , Pessoa de Meia-Idade , Fenótipo , Índice de Gravidade de DoençaRESUMO
The ketogenic diet is a high-fat, low-carbohydrate diet long used to treat refractory epilepsy; ketogenesis (ketone body formation) is a physiological phenomenon also observed in patients following lowcarbohydrate, low-calorie diets prescribed for rapid weight loss. We report the case of a pair of twin sisters, whose high-frequency migraine improved during a ketogenic diet they followed in order to lose weight. The observed time-lock between ketogenesis and migraine improvement provides some insight into how ketones act to improve migraine.
Assuntos
Dieta Cetogênica , Doenças em Gêmeos/dietoterapia , Transtornos de Enxaqueca/dietoterapia , Feminino , Humanos , Pessoa de Meia-Idade , IrmãosRESUMO
Fifteen-month-old twins presented with photophobia and bilateral corneal pseudodendrites, and tyrosinemia type II was suspected. Plasma tyrosine levels were elevated. After therapy with tyrosine-restricted diet, corneal lesions resolved. Bilateral pseudodendritic keratitis may be the initial or only manifestation of tyrosinemia type II.