A term newborn infant is noticed to be hypotonic, which of the following is the possible diagnosis
Galactosemia is a condition in which the body is unable to use ( Causes Galactosemia is an inherited disorder. This means it is passed down through families. If both parents carry a nonworking copy of the gene that can cause galactosemia, each of their children has a 25% (1 in 4) chance of being affected with it. There are 3 forms of the disease: Galactose-1 phosphate uridyl transferase (GALT) deficiency: Classic galactosemia, the most common and most severe form Deficiency of galactose kinase (GALK) Deficiency of galactose-6-phosphate epimerase (GALE) Symptoms Infants with galactosemia can show symptoms in the first few days of life if they eat formula or breast milk that contains lactose. The symptoms may be due to a serious blood infection with the bacteria E coli. Symptoms of galactosemia are: Reference: GHAI Essential pediatrics, 8th edition
Turner's syndrome
Kugelberg Welander disease
Cephalhaematoma
Galactosaemia
Genetic and genetic disorders