Infantile hypophosphatasia

Infantile hypophosphatasia is a severe, early-onset form of hypophosphatasia, an inherited metabolic disorder caused by loss-of-function variants in the *ALPL* gene that result in deficient tissue-nonspecific alkaline phosphatase activity Typically presenting between birth and six months of age, this systemic condition primarily affects the skeletal, respiratory, and central nervous systems due to impaired bone and dental mineralization Biochemically, it is characterized by paradoxically low ser...

Typically presenting between birth and six months of age, this systemic condition primarily affects the skeletal, respiratory, and central nervous systems due to impaired bone and dental mineralization Biochemically, it is characterized by paradoxically low serum alkaline phosphatase activity accompanied by elevated extracellular substrates such as inorganic pyrophosphate and pyridoxal 5'-phosphate

Typically presenting between birth and six months of age, this systemic condition primarily affects the skeletal, respiratory, and central nervous systems due to impaired bone and dental mineralization Hallmarks include progressive rachitic skeletal deformities, flared metaphyses, rib cage instability leading to respiratory compromise, failure to thrive, hypercalcemia, and vitamin B6-dependent seizures

Hallmarks include progressive rachitic skeletal deformities, flared metaphyses, rib cage instability leading to respiratory compromise, failure to thrive, hypercalcemia, and vitamin B6-dependent seizures