I have a genetics disease identification question: Assignment for Module 3, Part

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I have a genetics disease identification question:

Assignment for Module 3, Part II (5.5 points; 0.5 points/question Fill-in the disease described by its symptoms, cause and treatment. All of these genetic diseases are described in your textbook. Disease Symptoms Mutation or cause of disease Treatment Accumulation of homogentisic Autosomal recessive mutation in Unknown- painkillers, joint acid in urine; arthritis defective enzyme in tyrosine replacement athwa Accumulation of phenylpyruvic Autosomal recessive mutation in Low protein diet with acid in urine; mental retardation; musty odor; impaired reflexes; epileptic seizures; fair complexion Slow physical development during weeks after birth; mental retardation; thyroid gland enlarges Severe enlargement of liver in Autosomal recessive defect inUnknown - high protein diet; 20s 30s In early life, dehydration, loss of Autosomal recessive mutation in Lactose-free milk substitutes appetite: jaundice; cataracts; galactose-1-phosphate uridyl and food PAH (phenylalanine hydroxylase essential amino acid supplements without phenylalanine Autosomal recessive in an enzyme that converts tyrosine to thyroxine Thyroid hormone supplements 4 lucose-6-phosphatase infusion of glucose in infants 5mental retardation; some have transferase (GALT) with multiple alleles impaired balance and motor skills (writing Organ pain leading to organ damage and failure; heart attack and stroke possible; fatigue Most common reason for mental retardation especially in trinucleotide repeats in FMR-1 Autosomal recessive missenseBlood transfusion; in position 6 of beta globin subunit of hemoglobin supplemental oxygen; hydroxyurea Allelic expansion of Unknown - training to cope 7

Explanation / Answer

Alkaptonuria Phenylketonuria Hashimotos thyroiditis Von Gierke disease Galactosemia type1 Sickle cell anemia Fragile X syndrome Xeroderma pigmentosum Cystic fibrosis Praderwilli syndrome Uniparental disomy

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