Galactosemia

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Galactosemia

GI

GI

Anatomy of the pharynx and esophagus

Anatomy of the oral cavity

Anatomy of the salivary glands

Anatomy of the tongue

Anatomy of the anterolateral abdominal wall

Anatomy of the gastrointestinal organs of the pelvis and perineum

Anatomy of the muscles and nerves of the posterior abdominal wall

Anatomy of the peritoneum and peritoneal cavity

Anatomy of the inguinal region

Anatomy clinical correlates: Anterior and posterior abdominal wall

Development of the digestive system and body cavities

Development of the gastrointestinal system

Esophagus histology

Gastrointestinal system anatomy and physiology

Enteric nervous system

Esophageal motility

Gastric motility

Chewing and swallowing

Zenker diverticulum

Esophageal cancer

Esophageal disorders: Pathology review

Esophageal disorders: Clinical

Anatomy of the abdominal viscera: Large intestine

Anatomy of the abdominal viscera: Innervation of the abdominal viscera

Anatomy of the abdominal viscera: Small intestine

Stomach histology

Colon histology

Small intestine histology

Gastrointestinal hormones

Fats and lipids

Pancreatic secretion

Intestinal fluid balance

Carbohydrates and sugars

Pyloric stenosis

Cyclic vomiting syndrome

Gastroenteritis

Intestinal atresia

Intestinal malrotation

Hirschsprung disease

Meckel diverticulum

Imperforate anus

Intussusception

Lactose intolerance

Whipple's disease

Ulcerative colitis

Microscopic colitis

Bowel obstruction

Abdominal hernias

Inguinal hernia

Ischemic colitis

Small bowel ischemia and infarction

Irritable bowel syndrome

Diverticulosis and diverticulitis

Acute pancreatitis

Chronic pancreatitis

Zollinger-Ellison syndrome

Inflammatory bowel disease: Pathology review

Diverticular disease: Pathology review

Gastrointestinal bleeding: Pathology review

Pancreatitis: Pathology review

Congenital gastrointestinal disorders: Pathology review

GERD, peptic ulcers, gastritis, and stomach cancer: Pathology review

Malabsorption syndromes: Pathology review

Appendicitis: Pathology review

Laxatives and cathartics

Acid reducing medications

Clostridium difficile (Pseudomembranous colitis)

Escherichia coli

Vibrio cholerae (Cholera)

Campylobacter jejuni

Helicobacter pylori

Entamoeba histolytica (Amebiasis)

Giardia lamblia

Cryptosporidium

Ancylostoma duodenale and Necator americanus

Enterobius vermicularis (Pinworm)

Trichinella spiralis

Trichuris trichiura (Whipworm)

Hunger and satiety

Essential fructosuria

Hereditary fructose intolerance

Anatomy of the abdominal viscera: Liver, biliary ducts and gallbladder

Anatomy of the abdominal viscera: Pancreas and spleen

Anatomy of the abdominal viscera: Blood supply of the foregut, midgut and hindgut

Anatomy clinical correlates: Other abdominal organs

Anatomy clinical correlates: Viscera of the gastrointestinal tract

Gallbladder histology

Liver histology

Pancreas histology

Liver anatomy and physiology

Bile secretion and enterohepatic circulation

Familial adenomatous polyposis

Colorectal polyps

Colorectal cancer

Juvenile polyposis syndrome

Peutz-Jeghers syndrome

Carcinoid syndrome

Portal hypertension

Non-alcoholic fatty liver disease

Budd-Chiari syndrome

Cholestatic liver disease

Hepatocellular adenoma

Alcohol-induced liver disease

Autoimmune hepatitis

Primary sclerosing cholangitis

Benign liver tumors

Hepatocellular carcinoma

Acute cholecystitis

Chronic cholecystitis

Pancreatic cancer

Pancreatic pseudocyst

Pancreatic neuroendocrine neoplasms

Jaundice: Pathology review

Cirrhosis: Pathology review

Viral hepatitis: Pathology review

Gallbladder disorders: Pathology review

Colorectal polyps and cancer: Pathology review

Hypercholesterolemia: Clinical

Dyslipidemias: Pathology review

Hepatitis C virus

Familial hypercholesterolemia

Lysosomal storage disorders: Pathology review

Cholesterol metabolism

Gaucher disease (NORD)

Niemann-Pick disease types A and B (NORD)

Niemann-Pick disease type C

Tay-Sachs disease (NORD)

Fabry disease (NORD)

Metachromatic leukodystrophy (NORD)

Abetalipoproteinemia

Hypertriglyceridemia

Disorders of fatty acid metabolism: Pathology review

Crigler-Najjar syndrome

Gilbert's syndrome

Dubin-Johnson syndrome

Biliary atresia

Hepatic encephalopathy

Primary biliary cirrhosis

Hemochromatosis

Ascending cholangitis

Gallstone ileus

Cholangiocarcinoma

Gallbladder cancer

Heme synthesis disorders: Pathology review

Cirrhosis: Clinical

Appendicitis: Clinical

Abdominal pain: Clinical

Gastrointestinal bleeding: Clinical

Peptic ulcers and stomach cancer: Clinical

Inflammatory bowel disease: Clinical

Diverticular disease: Clinical

Gallbladder disorders: Clinical

Pancreatitis: Clinical

Hernias: Clinical

Bowel obstruction: Clinical

Abdominal trauma: Clinical

Diarrhea: Clinical

Esophagitis: Clinical

Anal conditions: Clinical

Malabsorption: Clinical

Gastroparesis: Clinical

Gastroesophageal reflux disease (GERD): Clinical

Jaundice: Clinical

Viral hepatitis: Clinical

Transplant rejection

Graft-versus-host disease

Folate (Vitamin B9) deficiency

Vitamin C deficiency

Vitamin D deficiency

Vitamin B12 deficiency

Niacin (Vitamin B3) deficiency

Vitamin K deficiency

Fat-soluble vitamin deficiency and toxicity: Pathology review

Water-soluble vitamin deficiency and toxicity: B1-B7: Pathology review

Vitamins and minerals

Intestinal adhesions

Assessments

Flashcards

0 / 8 complete

USMLE® Step 1 questions

0 / 1 complete

High Yield Notes

3 pages

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?

External References

First Aid

2024

2023

2022

2021

Cataracts p. 550

galactosemia p. 78

Escherichia coli p. , 143

galactosemia as cause p. 78

Failure to thrive p. 573

galactosemia p. 78

Galactosemia p. 78

cataracts and p. 550

Hepatomegaly

galactosemia p. 78

Jaundice p. 400

galactosemia p. 78

Neonates

galactosemia in p. 78

Summary

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..