phenylketouria
findingsHypopigmentation involving the skin, hair, eyes, and ☆catecholaminergic brain nuclei (which produce a dark pigment known as neuromelanin) results from the inhibitory effect of excess phenylalanine on melanin synthesis.
intellectual disability, growth retardation, seizures, fair complexion(face skin), eczema, musty body odor. biochemistryUWorld Mar 9, 2020, 5:05 AM HirotoShishido
cystinuria
pathophysiologya defect in amino acid reabsorption in the ☆proximal tubule that leads to defective reabsorption of cystine, ornithine, lysine, and arginine(COLA)
infertility in cystic fibrosisimproper development of the ☆mesonephric (Wolffian) duct system, which most often leads to a defective vas deferens biochemistry Dec 31, 2019, 10:32 AM HirotoShishido
the most abundant form of RNA in the human bodyribosomal RNA
(constituting about 80% of all RNAs) biochemistrybiology Dec 30, 2019, 5:05 AM HirotoShishido
allelic heterogeneity
locus heterogeneityallelic→ different mutations at the same locus produce a similar phenotype
β-thalassemia
what enzyme for gluconeogenesis is activated by acetyl-CoA?pyruvate carboxylase(produce oxaloacetate from pyruvate) biochemistry Dec 20, 2019, 3:00 AM HirotoShishido
dopamin β-hydroxylase deficiency
symptomsdysfunctional autonomic system
which has no neurologic symptoms, folate deficiency, or cobalamin deficiency?folate deficiency has no neurological symptoms biochemistryhematology Nov 20, 2019, 6:17 AM HirotoShishido
treatment for Wilson disease, hemochromatosisWilson→ chelation with ☆penicillamine
when should children be introduced to complimentary baby foodat 6 months of age
Breast milk contains very little iron, approximately 0.35 mg/liter. After 6 months, most infants’ iron stores have been depleted, so this iron needs to come from complementary foods +/- fortified formula biochemistrypediatrics Nov 2, 2019, 12:10 AM HirotoShishido
the difference between
rough endoplastic reticulum(RER) and
smooth endoplastic reticulum(SER)RER→ synthesis of secretory proteins
mucus secreting goblet cells of the small intestine and ☆antibody secreting plasma cells are rich in RER
SER→ synthesis of steroid and detoxification of drugs and poisons
liver hepatocyts, adrenal cortex and gonads are rich in SER biochemistry Nov 24, 2019, 2:04 AM HirotoShishido
the most abundant amino acid in collagenglycine occupies every third amino acid position(Gly-X-Y) biochemistryUWorld Feb 4, 2020, 2:13 AM HirotoShishido
how is fatty acid degradation regulatedmalonyl CoA inhibits carnithine acyltransferase,
preventing the transfer of acyl groups into the mitochondria biochemistryUWorld Feb 1, 2020, 5:39 AM HirotoShishido