| Autor: |
Ille, Vanja, Petković Ramadža, Danijela, Žigman, Tamara, Filipović- Grčić, Boris, Grizelj, Ruža, Ninković, Dorotea, Bartoniček, Dorotea, Škaričić, Ana, Bilandžija Kuš, Iva, Mesarić, Nikola, Krnjak, Goran, Fumić, Ksenija, Barić, Ivo |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
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| Popis: |
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) or glutaric aciduria type II is a rare, autosomal recessive disorder of fatty acid and amino acid oxidation. Disease is caused by pathogenic mutations in ETFA or ETFB genes, which encode two subunits of electron transfer flavoprotein (ETF), or ETFDH gene, encoding for ETF-dehydrogenase. Phenotype is heterogenous, from severe neonatal acute metabolic decompensation, with or without congenital anomalies, to milder, late onset forms. Diagnosis is made by acylcar- nitine and urinary organic acid analysis, and gene testing. Treatment is based on restricted fat and protein intake, high carbohydrate diet, with carnitine, riboflavin and CoQ10 supplementation. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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