nemoci-sympt/METABOLISMUS/fenylketonurie/mirna-fku

Baicalin

• Gut microbiota and phenylalanine metabolism in Mycoplasma G infection.
• Baicalin reversed peripheral accumulation of phenylalanine induced by Mycoplasma G infection.
• Increased phenylalanine
• Induced excessive necroptosis through the modulation of gga-miR-190a-3p-Fas-associated protein with death domain (FADD) axis in HD11 macrophages
• Baicalin
• Could effectively inhibit MG-induced inflammatory injury in the lung by remodeling the gut microbiota and phenylalanine metabolism
• pubs.rsc.org/en/content/articlelanding/2021/fo/d1fo00055a

Mild PKU

• Mild PKU can tolerate more protein

Mild PKU kazuistika

• Dry blood spot sampling for newborn screening (NBS) performed on day 4 during parenteral feeding
• Elevated phenylalanine level of 650 µmol/L.
• Elevated plasma phenylalanine (768 µmol/L) and low plasma tyrosine (31 µmol/L) in quantitative amino acid analysis
• Supported the tentative diagnosis of phenylketonuria
• But the additional slightly elevated branched-chain amino acids (leucine/isoleucine 306 µmol/L; valine 299 µmol/L) at first supported the clinical suspicion of MSUD.
• Alloisoleucine was not detectable with the second-tier test, therefore MSUD could be excluded [9].
• Administration of BH4 showed a significant decrease of phenylalanine level (744 to 169 µmol/L) 24 h after administration of 20 mg/kg BH4 on day 12 of life.
• DHPR activity as well as neopterin and biopterin concentrations in blood and urine were normal.
• Therefore, mild phenylketonuria (ORPHA79253) caused by phenylalanine hydroxylase deficiency was presumed. Genetic testing of the PAH gene revealed compound heterozygosity for two mutations in the PAH gene: c.612T>G, p.(Tyr204*) and c.1241A>G, p.(Tyr414Cys).
• Mutation analysis of the parents confirmed that these two mutations are in trans.
• This genotype is associated with BH4-responsive PKU
• www.mdpi.com/2409-515X/3/3/24/htm