Search results
Results from the WOW.Com Content Network
PAH deficiency causes a spectrum of disorders, including classic phenylketonuria (PKU) and mild hyperphenylalaninemia (also known as "hyperphe" or "mild HPA"), [24] a less severe accumulation of phenylalanine. Compared to classic PKU patients, patients with "hyperphe" have greater PAH enzyme activity and are able to tolerate larger amounts of ...
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 ...
R.Constante, Juliana et al. reported a list of symptoms in a study of 20 cases. [1] Those symptoms included: neurodevelopmental delay, gross motor function impairment, intellectual disability, language impairment, epilepsy and clumsiness, and also microcephaly, non present at birth. [citation needed]
E.g., reduction of dietary protein remains a mainstay of treatment for phenylketonuria and other amino acid disorders Dietary supplementation or replacement E.g., oral ingestion of cornstarch several times a day helps prevent people with glycogen storage diseases from becoming seriously hypoglycemic .
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.
The Autoimmune Protocol (AIP) diet is an elimination diet designed to help reduce inflammation, manage symptoms and improve quality of life for people with autoimmune diseases.
Maple syrup urine disease can be classified by its pattern of signs and symptoms or by its genetic cause. The most common and severe form of this disease is the classic type, which appears soon after birth, and as long as it remains untreated, gives rise to progressive and unremitting symptoms.
Two other possible culprits that are usually diagnosed in newborns, according to Dr. Castilla, include biotinidase deficiency (BTD) and phenylketonuria (PKU). The former makes it difficult for the ...