Galactosemia

Galactosemia

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Cell signaling pathways

Body fluid compartments

Electron transport chain and oxidative phosphorylation

Blood components

Blood pressure, blood flow, and resistance

Buffering and Henderson-Hasselbalch equation

Physiologic pH and buffers

Acid-base map and compensatory mechanisms

Acid-base disturbances: Pathology review

Resting membrane potential

Development of the fetal membranes

Cellular structure and function

Protein structure and synthesis

Amino acids and protein folding

Fatty acid synthesis

Fatty acid oxidation

Citric acid cycle

Electron transport chain and oxidative phosphorylation

Gluconeogenesis

Glycogen metabolism

Pentose phosphate pathway

Physiological changes during exercise

Amino acid metabolism

Nitrogen and urea cycle

Fatty acid synthesis

Fatty acid oxidation

Ketone body metabolism

Cholesterol metabolism

Essential fructosuria

Hereditary fructose intolerance

Pyruvate dehydrogenase deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

Lactose intolerance

Glycogen storage disease type I

Glycogen storage disease type II (NORD)

Glycogen storage disease type III

Glycogen storage disease type IV

Glycogen storage disease type V

Metachromatic leukodystrophy (NORD)

Gaucher disease (NORD)

Niemann-Pick disease types A and B (NORD)

Niemann-Pick disease type C

Fabry disease (NORD)

Tay-Sachs disease (NORD)

Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)

Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)

Hartnup disease

Ornithine transcarbamylase deficiency

Phenylketonuria (NORD)

Cystinuria (NORD)

Maple syrup urine disease

Abetalipoproteinemia

Familial hypercholesterolemia

Hypertriglyceridemia

Disorders of carbohydrate metabolism: Pathology review

Disorders of fatty acid metabolism: Pathology review

Dyslipidemias: Pathology review

Glycogen storage disorders: Pathology review

Lysosomal storage disorders: Pathology review

Disorders of amino acid metabolism: Pathology review

Flashcards

Galactosemia

0 of 8 complete

Questions

USMLE® Step 1 style questions USMLE

0 of 1 complete

A 1-month-old infant is brought to the emergency department because of failure to thrive and recurrent vomiting. The patient was born full-term at home via an uncomplicated vaginal delivery. Shortly after birth, the patient began experiencing nausea and vomiting after feedings. The patient was at the 50th percentile for weight at birth. At today’s visit, the patient is at the 25th percentile. Temperature is 36.9°C (98.4°F), pulse is 108/min, blood pressure is 77/40 mmHg, and respiratory rate is 56/min. Physical examination reveals jaundice and hepatomegaly. Fundoscopic examination reveals bilateral clouding of the lens. Urine dipstick is negative for glucose. Additional testing reveals the presence of reducing substances in the urine. Which of the following is the most likely diagnosis?

Key Takeaways

Galactosemia is an autosomal recessive disorder of galactose metabolism. People with galactosemia lack one of the enzymes that break down galactose, which results in the accumulation of certain toxins in the liver, brain, and eyes. Symptoms of galactosemia include diarrhea, vomiting, jaundice, and damage to the liver and brain..