Biochem lab Final

What disease presents with autosomal recessive mutation on HBB gene on chromosome 11?

Beta thalassemia major (HbA)

What disease presents with autosomal dominant mutation of FBN-1 on chromosome 15?

Marfans syndrome

What disease presents with autosomal recessive mutation decreasing phenylalanine hydroxylase on chromosome 12?

phenylketoneurea

What disease presents with a defective BCKDH and is autosomal recessive?

Maple syrup urine disease

What disease presents with N routinization on ALDOB gene?

Hereditary fructose intolerance

What disease presents with an autosomal recessive mutation on hexA gene on chromosome 15?

Tay sachs

What disease presents on neonatal children born prematurely?

Respiratory distress syndrome type 2

What disease presents with endothelial damage with plaque buildup in the arteries?

Coronary artery disease

What disease presents with a gallstone stuck in the neck of the gallbladder?

Cholecystitis

What disease presents with a high APOB 100 which increases VLDL and LDL with decreased lipoprotein lipase?

Familia hyperlipidemia type IIb

What disease presents at the end of the second trimester of pregnancy for women or at the end of the 20th week?

Intrahepatic cholestasis of pregnancy

What disease presents with an X linked recessive mutation of the HGPRT enzyme?

Lesh Nylon syndrome

What disease represents with an autosomal recessive malfunction in the nucleotide excision repair?

Xeroderma

What disease presents with an X linked dominant mutation with the FMR1 mutation being silenced resulting in decreased FMRP?

Fragile x syndrome

What disease results from an error in beta global production, causing an increase in alpha globin?

Beta thalassemia major

What disease presents with aortic dilation with a tall, thin adolescent individual?

Marvin syndrome

What disease presents with mousy odor in the urine due to increase in PHE?

phenylketonuria

What disease presents with a burnt sugary urine odor with increased BCAA (Leu, Ile, Val +ketoacids)

Maple syrup, urine disease

What disease presents with capillary permeability increase along with Endo damage, along with metabolic acidosis shock and disseminated interventricular coagulation?

Urosepsis

What disease presents with high F1 P in the blood liver damage, as well as failure to thrive and can lead to cataracts due to fructose?

Hereditary fructose intolerance

What disease is usually treated well with a carnivore diet and search up as a functional disorder(no structural abnormalities)

Irritable bowel syndrome

What disease presents with a GM to gang side buildup in askenazi jews with a cherry red spot on macula and no hepatosplenomegaly and is categorized as lysosomal disorder?

Tay sachs

What disease presents with pierce CNS involvement symptoms and diagnosed with a funduscopic exam?

tay sachs

What disease presents with decreased surfactant in the lungs?

Respiratory distress syndrome type 2/ hyaline membrane syndrome

What disease presents in patients who are female fair fat 40 fertile and eat high fat foods and present with right upper quadrant abdominal pain after eating, greasy or spicy food?

Cholecystitis

What is the gold standard for cholecystitis diagnosis?

Abdominal ultrasound

What disease presents with xanthoma, fatty liver and pancreatitis?

Hyperlipidemia type IIb

What disease presents with a gene mutations to ABCB4 → MDR3 and ABCB11 → BSEP, uritis with MRP3 in the bloodstream?

Intrahepatic cholestasis of pregnancy