Hyperphenylalaninemia: (also includes non-classic PKU)Phenylalanine N-monooxygenase: Phenylalanine N-monooxygenase (, phenylalanine N-hydroxylase, CYP79A2) is an enzyme with system name L-phenylalanine,NADPH:oxygen oxidoreductase (N-hydroxylating). This enzyme catalyses the following chemical reactionIvar Asbjørn Følling: Ivar Asbjørn Følling (23 August 1888 – 24 January 1973) was a Norwegian physician and biochemist who first described the disease named after him—Følling's disease—which is better known outside of Norway as phenylketonuria or, for short, PKU. He was born in Kvam, Steinkjer.BiopterinAnabaena variabilis: Anabaena variabilis is a species of filamentous cyanobacterium. This species of the genus Anabaena and the domain Eubacteria is capable of photosynthesis.Journal of Inherited Metabolic Disease: The Journal of Inherited Metabolic Disease is a peer-reviewed medical journal covering inherited metabolic disorders. It was established in 1978 and is the official journal of the Society for the Study of Inborn Errors of Metabolism.Microcephaly lymphoedema chorioretinal dysplasia: Microcephaly lymphoedema chorioretinal dysplasia (MLCRD) is a genetic condition associated with:Evolution of human intelligence: The evolution of human intelligence refers to a set of theories that attempt to explain how human intelligence has evolved and are closely tied to the evolution of the human brain and to the origin of language.Elicitor: Elicitors in plant biology are extrinsic, or foreign, molecules often associated with plant pests, diseases or synergistic organisms. Elicitor molecules can attach to special receptor proteins located on plant cell membranes.Alkaptonuria: (ILDS E70.210)Congenital hypothyroidismHyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.Low-protein diet: A low-protein diet is a diet in which people reduce their intake of protein. A low-protein diet is prescribed for those with inherited metabolic disorders, such as Phenylketonuria and Homocystinuria and reduced protein levels have been used by people with kidney or liver disease.GalactosemiaNon-receptor tyrosine kinase: Non-receptor tyrosine kinases (nRTKs) are cytoplasmic enzymes that are responsible for catalysing the transfer of a phosphate group from a nucleoside triphosphate donor, such as ATP, to tyrosine residues in proteins. Non-receptor tyrosine kinases are a subgroup of protein family tyrosine kinases, enzymes that can transfer the phosphate group from ATP to a tyrosine residue of a protein (phosphorylation).
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