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Galactosialidosis is a rare medical condition that affects many areas of the body. It has three main forms that are distinguished by the age at which symptoms develop and the specific pattern of clinical features. More than 100 cases have been reported till now in the medical literature. Approximately 60% of the patients with galactosialidosis have the juvenile or adult form. Most people who suffer with this condition are of Japanese descent. It belongs to a family of lysosomal storage disorders, each caused by the deficiency of a particular lysosomal enzyme or protein.


Galactosialidosis is caused by mutations in the CTSA gene. This gene provides instructions for making a protein called as cathepsin A, which is present in lysosomes. It works together with two enzymes, neuraminidase 1 and beta-galactosidase, to form a protein complex, which breaks down sugar molecules attached to certain proteins or fats. CTSA mutations obstruct the normal function of cathepsin A, impairing its ability to form complexes with beta-galactosidase, neuraminidase 1, and elastin binding protein. The medical condition is inherited in an autosomal recessive pattern.

Signs and symptoms:

The early infantile form of galactosialidosis causes extensive swelling due to fluid accumulation before birth (hydrops fetalis), inguinal hernia, enlarged liver (hepatomegaly) and enlarged spleen (splenomegaly). Additional clinical features of early infantile form include abnormal development of bone (dysostosis multiplex) and dismorphic facial features that are ‘coarse’ in nature. Some infants suffer with an enlarged heart (cardiomegaly). Many patients display an eye abnormality called a cherry-red spot, which can be detected with an eye examination. Another feature of this condition is kidney disease that can progress to renal failure. Infants with early infantile form usually are diagnosed between birth and 3 months, and they typically live into late infancy.

The late infantile form of galactosialidosis has many features that are similar with the early infantile form, although the signs and symptoms are less severe and begin somewhat later in infancy. This particular form is characterized by short stature, dysostosis multiplex, heart valve abnormalities, hepatomegaly, splenomegaly, and coarse facial features. Other clinical features seen in some patients with this type include hearing loss, intellectual disability, and a cherry-red spot. Children typically develop symptoms within the first year of life and the life expectancy varies depending on the severity of symptoms.

The juvenile or adult form of galactosialidosis has somewhat different set of signs and symptoms than those of the other two types. This form is demarcated by ataxia (difficulty coordinating movements), myoclonus (muscle twitches), seizures, and intellectual disability, progressive in nature. Patients typically also have angiokeratomas (dark red spots on the skin), abnormalities in the bones of the spine, a cherry-red spot, ‘coarse’ facial features, vision loss, and loss of hearing. The average age of development of symptoms is 16. The juvenile or adult form of galactosialidosis is typically associated with a normal life expectancy.


The diagnosis requires high index of clinical suspicion and requires medical history, clinical examination, genetic analysis, imaging studies (abdominal ultrasound, CT scan, echocardiogram), eye examination, neurological and psychological examination and ENT examination.


The management of Galactosialidosis is directed toward mitigation of the specific signs and symptoms that affect each individual. Such disease management may require the coordinated efforts of a team of medical professionals, such as pediatricians, orthopedists, metabolism specialists, neurologists, ophthalmologists, ENT specialists and other health care professionals. Surgical repair may be necessary for correction of certain craniofacial, and other malformations associated with the disorder. The patients may require behavioural therapy, neuropsychological support, and other symptomatic measures, such as anti-seizure medicines.