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A dog with degenerative myelopathy often stands with its legs close together and may not correct an unusual foot position due to a lack of conscious proprioception. Canine degenerative myelopathy, also known as chronic degenerative radiculomyelopathy, is an incurable, progressive disease of the canine spinal cord that is similar in many ways to amyotrophic lateral sclerosis (ALS).
In 1932, Grace Medes first described "a new disorder of tyrosine metabolism," She coined the condition "tyrosinosis" after observing 4-hydroxyphenylpyruvate in the urine of a 49-year-old man with myasthenia gravis. She proposed that the metabolic defect in this patient was a deficiency of 4-hydroxyphenylpyruvate dioxygenase, but her case ...
Experience with nitisinone has shown it to be effective, especially when started within the first month of life, and it is now the standard course of treatment. It is a 4-hydroxyphenylpyruvate dioxygenase inhibitor indicated for the treatment of hereditary tyrosinemia type 1 (HT-1) in combination with dietary restriction of tyrosine and ...
A dog with treated primary hypothyroidism should have a life expectancy equivalent to clinically healthy dogs. Prognosis is worse for myxoedema coma and congenital hypothyroidism. Death is still likely following early treatment for myxoedema coma. Prognosis is poor even for treated dogs with congenital hypothyroidism, many of the effects like ...
Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions in the cells of the liver. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. [citation needed]
Tetrahydrobiopterin deficiency (THBD, BH 4 D) is a rare metabolic disorder that increases the blood levels of phenylalanine.Phenylalanine is an amino acid obtained normally through the diet, but can be harmful if excess levels build up, causing intellectual disability and other serious health problems.
Dr. Rebecca MacMillan, a vet with over 15 years of experience, says she regularly sees four skin conditions in particular: skin allergies, parasites, acute moist dermatitis, and endocrine disease.
Phenylketonuria (PKU)-like symptoms, including more pronounced developmental defects, skin irritation, and vomiting, may appear when phenylalanine levels are near 20 mg/dL (1200 mol/L). [1] Hyperphenylalaninemia is a recessive hereditary metabolic disorder that is caused by the body's failure to convert phenylalanine to tyrosine as a result of ...