A lack of red blood cells, which can lead to fatigue, weakness and concentration problems.

See Fabry's disease.

A skin rash consisting of red nodules that usually occurs between the navel and the knee.

A disease of the respiratory tract.

examination of tissue samples taken from the body in order to diagnose a disease, its cause or extent.

A central molecule in sphingolipid metabolism, consisting of sphingosine or a related base bound to a long-chain fatty acid via its amino group.

The main sphingolipid that accumulates in Fabry disease.

A thread-like structure of nucleic acids and proteins that provides the genetic information in the form of genes in the nuclei of most living cells.

The recording or display of a patient's heartbeat by means of electrocardiography.

hormones that are released in the brain and nervous system and fulfill a number of physiological functions. For example, they activate the opioid receptors of the body and thus have an analgesic effect.

A substance produced by a living organism that acts as a catalyst to trigger a specific biochemical reaction.

A medical treatment to compensate for an enzyme deficiency. The patient usually receives the enzyme in the form of an intravenous infusion.

Extreme fatigue, typically caused by severe mental or physical exertion or illness.

The ability to father or conceive children.

Affects the stomach, small and large intestine.

Information about hereditary diseases, their consequences, inheritance, treatment and family planning.

The analysis of a group of people to determine the genetic probability of a particular disease.

Encodes an enzyme that cleaves glycosidic bonds - in particular ceramide trihexoside and melibiose.

See ceramide trihexoside.

A subgroup of glycolipids that contain the aminoalcohol sphingosine. These include the cerebrosides, gangliosides and globosides.

Electrocardiogram recorded over a longer period of time (usually 24 hours).

Liquid that is slowly released into a vein or tissue.

Something is administered into a vein or veins.

Affects the heart and blood vessels.

Flexible tube that is inserted into the body through a small opening to drain fluids (e.g. from the bladder).

This anhydride of creatine with the molecular formula C₄H₇N₃O is a metabolic product that is excreted in the urine.

Collective term for water-insoluble but fat-soluble substances such as oils, waxes and steroids.

An organelle in the cytoplasm of eukaryotes that contains degradative enzymes enclosed in a membrane 

Group of around 50 genetic metabolic diseases caused by malfunctions of the lysosomes.

Imaging procedure that uses magnetic fields and radio waves to produce detailed images of the internal organs.

atoms connected to each other; the smallest basic unit of a chemical compound that can be involved in a chemical reaction.

Also known as bone loss, a decrease in bone density usually caused by hormonal changes or a lack of calcium or vitamin D.

Rare diseases

The medical care of children (pediatric medicine).

 Noticeably rapid, strong or irregular heartbeat, caused by excitement, exertion or illness.

Pre-natal examinations of the foetus or embryo during pregnancy.

Compounds made up of amino acids that fulfill vital functions as building blocks of tissue, enzymes and antibodies.

The system for absorbing oxygen and releasing carbon dioxide.

A gene that only produces its characteristic phenotype if both alleles are identical.

An odorless and tasteless substance found in many plants, cereals and potatoes.

State of physical or mental tension due to strain or pressure.
Emotional stress: Reaction to stressful or traumatic experiences.
Physical stress: Result of strong physical exertion, overwork or lack of recovery.

ear noises (ringing or hissing) that have no external cause.

 A thin tube inserted under the skin into a vein, through which medication can be delivered into the body and blood can be drawn .

An abnormal membrane sac or tissue cavity that may contain fluid