Naslov
Hypoketotic hypoglycemia and hyperammonemia as presenting features of early onset multiple acyl- CoA dehydrogenase deficiency

Autori
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

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Archives of disease in childhood, 106 (2021), Suppl 2 / - , 2021, A44-A44

Skup
10th Congress of European Paediatric Association EPA/UNEPSA jointly held with 14 th Congress of Croatian Paediatric Society

Mjesto i datum
Zagreb, Hrvatska, 07.10.2021. - 09.10.2021

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
acyl-coenzyme A dehydrogenase deficiency

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA