Biochem: FINAL - All disorders

These are all the mentioned disorders from Ch. 25-37 for the final Harper's Illustrated Biochem

What is defective/ deficient in familiar hypercholesterolemia type IIa?

LDL receptors on cells

What is Maple Syrup urine disease?

A defect in branched-chain amino acid metabolism (leucine, valine, and isoleucine) which causes ketoacidosis, neurological and intellectual disabilities.

What is Alkaptonuria?

high urine homogentisate levels that is a defect in tyrosine metabolism that causes urine and connective tissue to turn dark and arthritis

What is cystinuria?

A defect in renal reabsorption of cystine that causes cystine crystals in urine

What usually causes Ammonia Toxicity?

portal blood/ systemic blood bypassing the liver due to cirrhosis or liver failure

The diet of a child suffering from Maple Syrup Disease should be low in which amino acid:

branched-chain amino acids

What are porphyrias?

A group of genetic abnormalities in the synthesis of heme

What is jaundice?

Elevation of bilirubin due to over production or reduced excretion

What happens if there is a defect/ accucumlation of ALA or PBG? (2)

There is abdominal pain and neuropsychiatric symptoms

What happens if there is an accucumaltion of porphyrinogens? (4)

abdominal pain, neurophysiactric symptoms, photosensitivity, and severe disfigurement

What causes pre hepatic jaundice?

A overproduction of bilirubin due to hemolytic and sickle cell anemia

_____ Catabolism problems lead to a build up of uric acid

Purine

What can Purine overproduction lead to (2)?

Gout and kidney stones

What is Lesch-Nyhan Syndrome?

A disorder caused by mutations in the HPRT1 gene that causes an overproduction of uric acid leading to self mutilization, involuntary muscle movements, and neurological abnormalities

What is von Gierke Disease?

A Glucose 6-phosphatase deficiency that causes purine overproduction which leads to an enlarged liver and hyperuricemia

What causes Down syndrome?

3 copies of chromosome 21

What causes Turner syndrome? Who can have it?

Females only having one X chromosome

What is Klinefelter syndrome?

Male having XXY chromosomes

What is sickle cell anemia a MUTATION in? What type of Gene Disorder is it?

The HBB gene; a single gene disorder

What type of Gene disorder is Huntington’s disease and what is the mutation?

A single gene disorder which is a mutation in the HTT gene

What type of Gene disorder is Cystic fibrosis and what is the mutation?

A single gene disorder which is a mutation in the CFTR gene

What type of Gene disorder is Fragile X syndrome and what is the mutation?

A single gene disorder with a mutation in the FMR1 gene on the X chromosome

What type of Gene disorder is Hemophilia and what is the mutation?

A single gene disorder with a mutation in the F8 or F9 gene

What causes Breast cancer susceptibility 1 and 2 (BRCA1, BRCA2)?

A defect in homologous repair that degrades breast tumor suppressive genes

What causes Xeroderma Pigmentosum?

A defect in 9 genes involved in DNA nucleotide excision repair which causes increased sensitivity to light and increased sunburning

What causes HNPCC?

A defect in 5 genes involved in DNA repair which causes an increased risk of GI tract, kidney, and ovarian cancers