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Phenylketonuria is an inherited genetic disorder. It is caused by mutations in the PAH gene, which can result in inefficient or nonfunctional phenylalanine hydroxylase, an enzyme responsible for the metabolism of excess phenylalanine. This results in the buildup of dietary phenylalanine to potentially toxic levels.
Lesch–Nyhan syndrome. Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome. LNS affects about 1 in 380,000 live births. [3]
Pacing, restlessness, anxiety. Dark red gums at first, then pale, cold gums signaling lack of oxygen. If you suspect that your dog has bloat, consult with your vet immediately. "Bloat and gastric ...
Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine in the blood. Phenylketonuria (PKU) can result in severe hyperphenylalaninemia. [2] Phenylalanine concentrations are routinely screened in newborns by the neonatal heel prick (Guthrie test), which takes a few ...
Fanconi syndrome or Fanconi's syndrome (English: / f ɑː n ˈ k oʊ n i /, / f æ n-/) is a syndrome of inadequate reabsorption in the proximal renal tubules [1] of the kidney.The syndrome can be caused by various underlying congenital or acquired diseases, by toxicity (for example, from toxic heavy metals), or by adverse drug reactions. [2]
He posted a video on Tuesday, August 20th of three things pet paw-rents with anxious dogs should never do, and they make a lot of sense. Elijah explains that dog moms and dads who support their ...
Reproductive diseases. Prostate disease * in dogs includes benign prostatic hyperplasia (BPH), prostatitis (infection of the prostate), cancer, and cysts and abscesses. BPH is the most common and is found in older intact (not neutered) dogs. Signs include blood in the urine and straining to urinate and defecate.
Basepaws, a company that does genetic testing for cats and dogs, shared a video in mid-August of some of the cute common behaviors dogs display, as well as what they mean. The video starts with a ...