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Phenylketonuria is inherited in an autosomal recessive fashion. PKU is an autosomal recessive metabolic genetic disorder. As an autosomal recessive disorder, two PKU alleles are required for an individual to experience symptoms of the disease. For a child to inherit PKU, both parents must have and pass on the defective gene. [17]
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 ...
PTPS deficiency is not necessarily its own disease. It shares history with PKU and hyperphenylalaninemia (HPA) . Asbjørn Følling, a physician studying metabolic diseases, identified an excess of phenylpyruvate as the cause of a strange, musty odor from the urine of two Norwegian children. [13]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
List of medical symptoms. Medical symptoms refer to the manifestations or indications of a disease or condition, perceived and complained about by the patient. [1] [2] Patients observe these symptoms and seek medical advice from healthcare professionals.
This article provides a list of autoimmune diseases. These conditions, where the body's immune system mistakenly attacks its own cells, affect a range of organs and systems within the body. Each disorder is listed with the primary organ or body part that it affects and the associated autoantibodies that are typically found in people diagnosed ...
Diseases and disorders GAD Generalized anxiety disorder: GAN Giant axonal neuropathy: GAS disease Group A Streptococcal disease: GAVE Gastric antral vascular ectasia (see Watermelon stomach) GBS Guillain–Barré syndrome: GBS disease Group B Streptococcal disease: GCE Glycine encephalopathy: GD Gestational diabetes: GERD Gastroesophageal ...
Paget disease extramammary; Paget disease juvenile type; Paget's disease of bone; Paget's disease of the breast; Paget's disease, type 1; Pagon–Bird–Detter syndrome; Pagon–Stephan syndrome; Pai–Levkoff syndrome; Palant cleft palate syndrome; Palindromic rheumatism; Pallister–Hall syndrome; Pallister–Killian syndrome; Palmer–Pagon ...