Galactosemia Definition, Symptoms, Life Expectancy, Treatment, & Diet

Symptoms of galactosemia

The baby looks healthy in the first few days of life. Symptoms start to develop when the baby begins to feed either human milk or galactose formula milk.

Early symptoms

• Anorexia: the baby loses his appetite.
• Severe vomiting.
• Jaundice: yellowish discoloration of the skin, mucous tissue, and white of the eye
• Enlarged liver (Hepatomegaly)
• Protein in the urine (proteinuria)
• Aminoacids in the urine (aminoaciduria)
• Ascites: fluids accumulate in the abdomen.
• Edema: swelling in the lower limb and abdomen
• Diarrhea
• Growth retardation
• Lethargy: the baby feels sleepy and inactive.
• Irritability: small things make him angry.
• Severe weight loss
• Marked weakness
• Infection

If the baby doesn’t receive early treatment, he may show mental and physical problems, as follows:

Late symptoms

• Learning Difficulties in:
  1. Acquisition of the language rapidly
  2. Speech
  3. Reading
  4. Fine motor skills
• Neurological problems:
  1. Ataxia: incoordination of the voluntary movements
  2. Tremors: involuntary muscle contractions
  3. Dysmetria: inability to estimate the distance
  4. Imbalance and gait problem
• Ovarian impairment:
  1. Premature menopause: ovaries stop release follicles before the age of menopause.
  2. Delayed puberty
  3. Loss of menstrual periods