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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.
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 ...
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
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.
severe autosomal recessive neurodevelopmental disorder, presenting in early life with intractable seizures, absence of virtually all developmental milestones, visual impairment, progressive microcephaly and minor dysmorphic features [15] - - OMIM:UGP2: Glycogenesis step: Glycogen primer synthesis –
A woman got routine bloodwork during her second pregnancy and was shocked when the test results came back: It suggested her baby was healthy, but there was something unusual about her own health.
On the premiere episode of her new podcast, Khloé Kardashian recalled her "crazy, drunk" wrestling match with Scott Disick during Kim Kardashian and Kanye West's 2014 rehearsal dinner
It is an X-linked recessive disorder that results in defective glucose-6-phosphate dehydrogenase enzyme. [1] Glucose-6-phosphate dehydrogenase is an enzyme which protects red blood cells, which carry oxygen from the lungs to tissues throughout the body. A defect of the enzyme results in the premature breakdown of red blood cells.