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Complex V deficiency
- Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign ... cases.All individuals with CVID have a shortage (deficiency) of two or three specific antibodies. Some have ...
- UNC80 deficiency is a severe disorder characterized by nervous system and developmental problems that are apparent from birth or ... learned, they are usually retained.People with UNC80 deficiency have profound intellectual disability. Muscle tone is generally ...
- TRNT1 deficiency is a condition that affects many body systems. Its signs and symptoms can involve blood cells, the ... symptoms vary widely.A common feature of TRNT1 deficiency is a blood condition called sideroblastic anemia, which ...
- RAB18 deficiency causes two conditions with similar signs and symptoms that primarily affect the eyes, brain, and reproductive system. ... affect the life expectancy of affected individuals. RAB18 deficiency is rare; its exact prevalence is unknown. Warburg ...
- Dopamine transporter deficiency syndrome is a rare movement disorder. The condition is also known as infantile parkinsonism-dystonia because the problems with ...
- Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect several body systems. Signs and symptoms of this condition usually appear ... affected individuals.A common feature of dihydrolipoamide dehydrogenase deficiency is a potentially life-threatening buildup of lactic ...
- ... I, complex II, complex III, complex IV, and complex V. During oxidative phosphorylation, the protein complexes drive the ... which provides instructions for making a piece of complex V, also known as the ATP synthase protein complex. ...
- ... the condition. Glycogen storage disease 0 Glycogen synthase deficiency Glycogen synthetase deficiency GSD 0 GSD type 0 Hypoglycemia with deficiency of glycogen synthetase Genetic Testing Registry: Glycogen storage ...
- ... of lysosomal storage disorders, each caused by the deficiency of a specific lysosomal enzyme or protein. In ... not show signs and symptoms of the condition. Deficiency of cathepsin A Goldberg syndrome Lysosomal protective protein ...
- ... important role in blood clotting.The GPIb-IX-V complex can attach (bind) to a protein called von ... is an injury. Binding of the GPIb-IX-V complex to von Willebrand factor allows platelets to stick ...
