GALASTOSEMIAand G6PD DECK

• Galactosemia is a rare autosomal recessive disorder that results from various gene mutations leading to three distinct enzymatic deficiencies.
• The most common type of galactosemia (classic galactosemia) results from a deficiency of a hepatic enzyme, galactose 1-phosphate uridyltransferase (GALT)
• Symptoms of galactosemia appear when the child is begun on formula or breastfeeding.

  The untreated child may die by 3 days of age.
• Infants with galactosemia appear normal at birth, but within a few days of ingesting milk (which has a high lactose content), they begin to experience vomiting and diarrhea, leading to weight loss.
• TYPE 1: DEFIANT GALACTOKINASE

  inability to convert galactose to glucose - galactosemia - galactosuria

  Complications - Mental deficiency, cataracts and death

  Dietary treatment - galactose- free diet (galactose: high in milk and milk products)
• Treatment of galactosemia consists of using a galactose-free diet or formula made with mild substitutes.

  Symptoms of the disease do not progress once the child is regulated on this diet.
• Suggest genetic testing preferably before pregnancy in any family suspected of being carriers of the trait.

  Support the parents through analysis of the infant’s cord blood, the Beutler test, if the child is known to be at risk for the disorder
• During infancy, treatment consists of eliminating all milk and lactose containing formula, including breast milk. Traditionally, lactose-free formulas are used, with soy-protein formula being the feeding of choice; however, some research suggests that elemental formula (galactose-free) may be more beneficial than soy formulas
• GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY - The most common enzyme deficiency worldwide, causes a spectrum of disease including neonatal hyperbilirubinemia, acute hemolysis, and chronic hemolysis. Persons with this condition also may be asymptomatic.
• This X-linked inherited disorder most commonly affects persons of African, Asian, Mediterranean, or MiddleEastern descent. Approximately 400 million people are affected worldwide.
• Congenital non-spherocytic type

  causes hemolysis, jaundice, and splenomegaly and may cause aplastic crises.
• Drug-induced type

  Blood pattern is normal until the child is exposed to fava beans or drug such as antipyretics, sulfonamides, antimalarials, and napthoquinones (the most common drug in these groups is aspirin).
• DRUG-INDUCED TYPE

  Approx. 2 days after ingestion, the child begins to show evidence of hemolysis, a low-grade fever, and perhaps back pain.

  A blood smear will show Heinz bodies (oddly shaped particles in RBCs). Usually self-limiting, and if the child is not exposed to substances that cause hemolysis, BT are rarely necessary.
• Maple Syrup Urine Disease • A rare disorder, inherited as an autosomal recessive trait, characterized by deficiency of enzyme complex (branched-chain alpha-keto acid dehydrogenase) that is required to break down (metabolize) the three
• HEMOGLOBINOPATHIES - are inherited conditions that affect the number or shape of the red blood cells in the body.
• BIOTINIDASE DEFICIENCY-is a genetic disorder that is found in a few babies born each year.When a baby has biotinidase deficiency, he or she cannot use biotin, a vitamin that is found in foods, including breast milk and infant formula. Without biotin, the baby will not grow and develop properly
• CYSTIC FIBROSIS (CF)- is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body
• SEVERE COMBINED IMMUNODEFICIENCY- sulting in a weak immune system that is unable to fight off even mild infections. It is considered to be the most serious PIDD.
• CRITICAL CONGENITAL HEART DISEASE- is a term that refers to a group of serious heart defects that are present from birth