What are some metabolic diseases caused by amino acid or nucleotide synthesis/degradation mutations?

Solutions

Expert Solution

The following are some of the metabolic diseases caused by amino acids:

Alkaptonuria: Alkaptonuria is caused by a mutation on your homogentisate 1,2-dioxygenase (HGD) gene. It's an autosomally recessive condition.
Phenylketonuria: its an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.The body can’t break down the amino acid phenylalanine
Tyrosinemia: The body can’t break down the amino acid phenylalanine and it will cause rickets, coma and death.
Maple syrup urine disease: Its the condition which may have urine that smells like maple syrup. In this disorder, the body can’t break down the amino acids leucine, isoleucine and valine.
Homocystinuria: Its a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites and it cannot breakdown the aminoacid homocysteine.
Isovaleric acidemia: Isovaleric acidemia (IVA) is an inherited disorder in which the body is unable to properly process proteins, leading to a toxic buildup of isovaleric acid in the blood.
Argininosuccinic acidemia (ASA): In this the body cannot remove ammonia or a substance called argininosuccinic acid from the blood. It leads in damage of the brain.

The following are some of the metabolic diseases nucleotide syntheis/degradation:

Gout: It is the type of arthritis which causes inflammation. The uric acid is deposited in soft tissues.
Orotic aciudia: It causes megaloblastic anemia, mental retardation and stunted growth.
Hydiopathic hyperuricemia: Overproduction of uricacid takes place.
Psoriasis: Roughness of the skin takes place.

gladiator answered 1 year ago

Next > < Previous

Related Solutions

Gluconeogenesis 1. As part of the metabolic pathway for amino acid degradation, malate not oxalacetate is...

Gluconeogenesis 1. As part of the metabolic pathway for amino acid degradation, malate not oxalacetate is transported into the cytoplasm form the mitochondrion. Why malate? 2. Explain how carbon dioxide serves to couple ATP hydrolysis into the energetics of the synthesis of PEP to pyruvate? Provide both mechanism and energetics. These two questions are from a study guide and I'm struggling finding the answers in my notes and text book, thank you for your help!

Perhaps the most central concept in amino acid degradation is that some amino acids are glucogenic,...

Perhaps the most central concept in amino acid degradation is that some amino acids are glucogenic, some are ketogenic and some are both glucogenic and ketogenic. Which of the following amino acids is both glucogenic and ketogenic? A. Arg B. Ile C. Leu D. Asn E. Cys

What is the simplest evolutionary explanation for: Nucleotide synthesis uses several amino acids Deoxyribose is made...

What is the simplest evolutionary explanation for: Nucleotide synthesis uses several amino acids Deoxyribose is made from ribose Hint: Determine which one came first. Provide detailed answer for full credit!

How does each of your mutations affect the amino acid sequences? Are the mutations missense mutations,...

How does each of your mutations affect the amino acid sequences? Are the mutations missense mutations, silent mutations or nonsense mutations? Point mutation? Frameshift-insertion? Frameshift-deletion The non mutated Sequence: AUG GAG GUC UUU AAG AGA CAU UUA GAU GUA GCC CUU AGU GAU GUU UAG Point Mutation: AUG GAC GUC UUC AAG AGC CAU UUA GAA GUA GCC CUU AGU GAU GUC UAG Translation: Met Asp Val Phe Lys Ser His Leu Glu Val Ala Leu Ser Asp Val Stop....

1. Describe the metabolic fates of phenylalanine; highlighting the synthesis and degradation pathways of catecholamines (dopamine,...

1. Describe the metabolic fates of phenylalanine; highlighting the synthesis and degradation pathways of catecholamines (dopamine, norepinephrine and epinephrine), melanin and thyroid hormones. 2. Describe the biochemical relationships between these disease and phenylalanine metabolism; albinism, phyenylketonuria, parkinson's disease and Haloperidol toxicity. 3. Describe the pharmacological importance of the enzymes COMT and MAO. 4. How can a knowledge of phenylalanine metabolism be useful in the laboratory diagnosis of pheochromocytoma? Describe the role of ethanol in cellular energy supply, the metabolism of...

1. How does each of your mutations affect the amino acid sequences? Are the mutations missense...

1. How does each of your mutations affect the amino acid sequences? Are the mutations missense mutations, silent mutations or nonsense mutations? a. Point mutation? b. Frameshift-insertion? c. Frameshift-deletion? 2. What differences did you notice between the point mutation and the frameshift mutations? 3. Is it possible to determine the DNA sequence from the following amino acid sequence?: Leu Pro Arg. Why or Why not? References:

What are the effects of the following on the rates of glycogen synthesis and glycogen degradation:...

What are the effects of the following on the rates of glycogen synthesis and glycogen degradation: (I put my thoughts and answers behind each one could you tell me if I'm correct and if my reasoning is correct/explain why) 1. Increasing Calcium Concentration (increase glycogen degradation and decrease synthesis because it activates phosphorylase kinase) 2. Increasing ATP concentration (Decrease glycogen degradation and increase glycogen synthesis) 3. Inhibiting adenyl cyclase (Decrease glycogen degradation...i dont know why) 4. Increasing Epinephrine (increase glycogen...

Question