Visit Metagene.de!
Summary
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE PHA1B
PHA I, AUTOSOMAL RECESSIVE
264350
OMIM = Online Medalian Inheritance of Men
171876
12p13.31, 16p12.2
rare
autosomal recessive
symptoms
dehydration
diarrhea
failure to thrive
feeding difficulties, poor feeding
metabolic acidosis
onset, infancy
vomiting
laboratory finding
Potassium mmol/lserum
Sodium mmol/lserum
Aldosterone ng/dlplasma
Renin activity (PRA) or renin ratioplasma
Sodium mmol/mol creatinineurine
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
Van Scherpenzeel M,et al.Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiencyBrain13741030-10382014