Alkaline phosphatase (ALP)
Enzyme that has a central role in bone and mineral metabolism, important, among other things, for calcification of the skeleton and cementum in the teeth. Low enzyme activity can also produce systemic consequences.
ALPL gene
The ALP gene is on the short arm of chromosome 1 (1p36.1-34) and is called TNSALP (tissue-nonspecific alkaline phosphatase) or ALPL (bone/liver/kidney ALP). More than 280 different mutations in the ALPL gene have been described in association with hypophosphatasia.
Apnoea
Respiratory arrest
Arthritis
Inflammatory joint changes
Autosomal dominant inheritance
Mutated gene from one parent gives rise to disease
Autosomal recessive inheritance
Mutated genes from both parents give rise to disease
Bisphosphonates
Drugs to combat bone resorption that work by inhibiting the activity of osteoclasts.
ChondrocalcinosisCalcification of cartilage.
CraniosynostosisCongenital skull deformity when one or more of the sutures binding the various sections of the skull together have fused prematurely.
DentinTooth bone – a form of hard tissue found in teeth.

Dentition(Gradual) emergence of the teeth.

Epileptic encephalopathy
Epileptic encephalopathies are a group of severe epilepsy syndromes in which the epilepsy is thought to cause diffuse, often serious, cerebral malfunctions, as well as developmental disorders.
Failure-to-thrive
A condition of much lower than normal body weight or very poor weight gain over time that is significantly lower than in other children of the same age and of the same gender.
Femoral
Relating to the thigh bone (femur).
Hypercalcaemia
Condition with high calcium levels in the blood.
HypercalciuriaCondition with high calcium levels in urine.
HyperphosphatasemiaCondition of high serum levels of the enzyme alkaline phosphatase (ALP).
HyperphosphatemiaCondition with high phosphate levels in the blood.
HypophosphatasemiaCondition of low serum levels of the enzyme alkaline phosphatase (ALP).
Hypophosphatasia (HPP)A rare, serious and potentially fatal, systemic, congenital metabolic disease caused by impaired activity of the enzyme alkaline phosphatase (ALP).
HypophosphatemiaCondition with low phosphate levels in the blood.
Hypophosphatemic ricketsRickets caused by low phosphate levels. This condition can be acquired or can be caused by a genetic disease such as X-linked hypophosphatemic rickets.
Inorganic pyrophosphate (PPi)
A natural inhibitor of bone mineralisation.
Metatarsal
Belonging to the mid-foot.
Nephrocalcinosis
Calcification of the kidneys
Odontohypophosphatasia
Form of hypophosphatasia that is only characterised by dental symptoms.
OsteoarthropathyMedical condition affecting bones and joints.
OsteochondralAssociated with cartilage or bones.
Osteogenesis Imperfecta (OI)
Hereditary connective tissue disease of varying degrees of severity, with brittle bones as the dominant symptom. This disease is also called congenital brittle bone disease.
OsteomalaciaBone softening. Medical condition caused by, for example, a vitamin D deficiency. In children the condition is called rickets.
OsteopeniaBone tissue deficiency with reduced bone density.
OsteoporosisBrittle bones.
Papilloedema
Swelling of the optic nerve.
Periodontal diseaseGum disease
Phosphoethanolamine (PEA)An amino acid derivative used in the formation of certain phospholipids.
PseudofractureRadiological signs of stress fracture.
PseudogoutJoint inflammation (arthritis) caused by deposits of calcium pyrophosphate crystals in joints. Also called pyrophosphate synovitis.
Pulmonary hypoplasiaIncomplete development of the lungs.
PulpSoft tissue of a tooth
Pyridoxal 5’ phosphate (PLP)The active form of vitamin B6.
Radiolucent areas/“tongues”
Dark areas of lower bone density on X-ray images.
RicketsMedical condition in children with deficient mineralisation of new bone, leading to a soft and deformed skeleton. Usually caused by a deficiency of vitamin D. In adults this condition is called osteomalacia.
Skeletal dysplasia
An umbrella term for more than 450 defined medical conditions of which the common feature is deviations in development of the skeleton. As the child grows, this leads to arms, legs and trunk being affected by growth disorders to various extents.
TNSALP gene
The ALP gene is on the short arm of chromosome 1 (1p36.1-34) and is called TNSALP (tissue-nonspecific alkaline phosphatase) or ALPL (bone/liver/kidney ALP). More than 280 different mutations in the ALPL gene have been described in association with hypophosphatasia.
X-linked hypophosphatemic rickets (XLH)
Genetic disease characterised by hypophosphatemia, rickets, osteomalacia, kidney-related problems and growth disorders.

SYMPTOMS AND CONDITIONS
ASSOCIATED WITH HYPOPHOSPHATASIA

COMMON SYMPTOMS AND CONDITIONS THAT
CAN BE CAUSED BY HYPOPHOSPHATASIA READ MORE

THE ALP CALCULATOR
– DIAGNOSTIC TOOL

LOW ALP ACTIVITY KEY TO DIAGNOSIS READ MORE


IMPORTANT DIFFERENTIAL DIAGNOSES

IMPORTANT DIFFERENTIAL 
DIAGNOSES/CONDITIONS READ MORE
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