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Commonly reported symptoms are initial truncal hypotonia, subsequent appendicular hypertonia, bradykinesia, cogwheel rigidity, generalized dystonia, and marked diurnal fluctuation. Other reported clinical features include difficulty in swallowing, oculogyric crises , somnolence , irritability , hyperthermia , and seizures .
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.
A small subset of patients with hyperphenylalaninemia shows an appropriate reduction in plasma phenylalanine levels with dietary restriction of this amino acid; however, these patients still develop progressive neurologic symptoms and seizures and usually die within the first 2 years of life ("malignant" hyperphenylalaninemia).
Tetrahydrobiopterin (BH 4, THB), also known as sapropterin (), [5] [6] is a cofactor of the three aromatic amino acid hydroxylase enzymes, [7] used in the degradation of amino acid phenylalanine and in the biosynthesis of the neurotransmitters serotonin (5-hydroxytryptamine, 5-HT), melatonin, dopamine, norepinephrine (noradrenaline), epinephrine (adrenaline), and is a cofactor for the ...
Hawkinsinuria is an autosomal dominant metabolic disorder affecting the metabolism of tyrosine. [1] [2] Normally, the breakdown of the amino acid tyrosine involves the conversion of 4-hydroxyphenylpyruvate to homogentisate by 4-hydroxyphenylpyruvate dioxygenase. Complete deficiency of this enzyme would lead to tyrosinemia III. In rare cases ...
When a young New York boy was diagnosed with a rare genetic disorder, hope came in an unlikely form — a golden retriever named Yammy. His mother shares the inspiring story with Fox News Digital.
Treatment involves a diet with a low phenylalanine content, and sapropterin to help normalize phenylalanine levels. Since phenylalanine levels in this disease have been reported to be only mildly elevated in the majority of patients, relaxation and discontinuation of phenylalanine-reduced diet and/or sapropterin supplementation can be attempted after the first year of life under careful ...
The Mayo Clinic diet was created by weight management practitioners at the Mayo Clinic and was designed as a lifestyle change program to promote gradual and sustained weight loss, says Melissa ...
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