A one month old baby presents to the emergency room with history of vomiting, irritability and jaundice. The baby was previously healthy without any symptoms. One week ago cereals and fruit juices were introduced into the diet. USG revealed hepatomegaly and liver functions test were abnormal. The deficient enzyme is
Answer: b) Aldolase-B (NELSON 20th ED, p-727)HEREDITARY FRUCTOSE INTOLERANCEDeficiency of fructose-1,6-bisphosphate aldolase (aldolase B)Patients are asymptomatic until fructose or sucrose (table sugar) is ingested (usually from fruit, fruit juice, or sweetened cereal)Symptoms may occur early in life, soon after birth if foods or formulas containing these sugars are introduced into the diet.Early clinical manifestations resemble galactosemia and include jaundice, hepatomegaly, vomiting, lethargy, irritability, and convulsionsLaboratory findings include prolonged clotting time, hypoalbuminuria, elevation of bilirubin and transaminase levels, and proximal tubular dysfunctionTreatment - complete elimination of all sources of sucrose, fructose, and sorbitol from the dietGalactose-1-phosphate uridyl transferase deficiency - Onset of symptoms typically by the second half of the 1st wk of lifeFructokinase deficiency - not associated with any clinical manifestations.Lysosomal acid alpha glucosidase (Pompe's disease) - affected infants present in the first few weeks to months of life with hypotonia, generalized muscle weakness with a "floppy infant" appearance, neuropathic bulbar weakness, feeding difficulties, macroglossia, hepatomegaly, and a hypertrophic cardiomyopathy followed by death from cardiorespiratory failure or respiratory infection usually by 1 yr of age
Fructokinase
Aldolase-B
Galactose-1 phosphate uridyl transferase
Acid alpha glucosidase
Inborn Errors of Metabolism