PhosphoethanolaminuriaHopsOther Metabolites Mapped to 'Hypophosphatasia'HMDB0000017 (4-Pyridoxic acid) HMDB0000051 (Ammonia) HMDB0000239 (Pyridoxine) HMDB0000547 (Magnesium) HMDB0001248 (FAD) HMDB0001319 (Pyridoxine 5'-phosphate) HMDB0001377 (Oxygen) HMDB0001431 (Pyridoxamine) HMDB0001491 (Pyridoxal 5'-phosphate) HMDB0001520 (Flavin mononucleotide)
- HMDB0002111 (Water)
- it is an inborn error of metabolism characterized clinically by defective bone mineralization that can be fatal early in infancy. three more or less distinct types can be identified: (1) type 1 with onset in utero or in early postnatal life, craniostenosis, severe skeletal abnormalities, hypercalcemia, and death in the first year or so of life; (2) type 2 with later, more gradual development of symptoms, moderately severe 'rachitic' skeletal changes and premature loss of teeth; (3) type 3 with no symptoms, the condition being determined on routine studies.
- Parent Term
- Biochemical pathway
- Parent Definition
- A linked series of chemical reactions that occur in a defined order within or between organism cells, and lead to a known function or end product.