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Summary
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE PHA1B
PHA I, AUTOSOMAL RECESSIVE
264350
OMIM = Online Medalian Inheritance of Men
171876
rare
autosomal recessive
symptoms
dehydration
diarrhea
failure to thrive
feeding difficulties, poor feeding
metabolic acidosis
onset, infancy
vomiting
laboratory finding
Potassium increasedserum
Sodium decreasedserum
Aldosterone increasedplasma
Renin activity (PRA) or renin increasedplasma
Sodium increasedurine
Literature
Amaral AU,et al.cis-4-Decenoic and decanoic acids impair mitochondrial energy, redox and Ca(2+) homeostasis and induce mitochondrial permeability transition pore opening in rat brain and liver: Possible implications for the pathogenesis of MCAD deficiencyBiochim Biophys Acta185791363-13722016
Maduemem KEMedium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD): a cause of severe hypoglycaemia in an apparently well childBMJ Case Rep002016
Ahrens-Nicklas RC,Pyle LC, Ficicioglu CMorbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiencyGenet Med18121315-13192016
Karaceper MDet al.The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort studyOrphanet J Rare Dis110122016