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Perinatal and infantile hypophosphatasia are inherited as autosomal recessive traits with homozygosity or compound heterozygosity for two defective TNSALP alleles. The mode of inheritance for childhood, adult, and odonto forms of hypophosphatasia can be either autosomal dominant or recessive. Autosomal transmission accounts for the fact that ...
Symptoms may include weakness, trouble breathing, and loss of appetite. [1] Complications may include seizures, coma, rhabdomyolysis, or softening of the bones. [1] Causes include alcohol use disorder, refeeding in those with malnutrition, recovery from diabetic ketoacidosis, burns, hyperventilation, and certain medications. [1]
Adults. Osteomalacia [16] Dental abscesses [20] Limited range of movement (enthesopathy) [20] [21] Short stature [20] Fatigue [19] Fractures / pseudofracture [22] Bone pain [18] People often have bowed legs or knock knees in which they usually cannot touch both knees and ankles together at the same time. [citation needed] Craniostenosis [20 ...
The severity of symptoms ranges from premature loss of deciduous teeth with no bone abnormalities to stillbirth [18] depending upon which amino acid [19] [20] is changed in the ALPL gene. Mutations in the ALPL gene lead to varying low activity of the enzyme tissue-nonspecific alkaline phosphatase (TNSALP or TNAP) resulting in hypophosphatasia ...
Most people have no symptoms while others develop calcium deposits in the soft tissue. [1] The disorder is often accompanied by low calcium blood levels, which can result in muscle spasms. [1] Causes include kidney failure, pseudohypoparathyroidism, hypoparathyroidism, diabetic ketoacidosis, tumor lysis syndrome, and rhabdomyolysis. [1]
Osteomalacia in children is known as rickets, and because of this, use of the term "osteomalacia" is often restricted to the milder, adult form of the disease. Signs and symptoms can include diffuse body pains, muscle weakness, and fragility of the bones.
Older adults are prone to dehydration for many reasons. Learn how to identify the symptoms of dehydration in older adults based on how they look and feel.
Metabolic bone disease is an abnormality of bones caused by a broad spectrum of disorders. Most commonly these disorders are caused by deficiencies of minerals such as calcium, phosphorus, magnesium or vitamin D leading to dramatic clinical disorders that are commonly reversible once the underlying defect has been treated.