Disease Symptoms 1 2 3 4 5 6 7 Accumulation Of Homogentisic Acid In Urine Arthritis Mutation Or Cause Of Disease Autoso 1 (171.51 KiB) Viewed 14 times
Disease Symptoms 1 2 3 4 5 6 7 Accumulation of homogentisic acid in urine; arthritis Mutation or cause of disease Autosomal recessive mutation in defective enzyme in tyrosine pathway Autosomal recessive mutation in PAH (phenylalanine hydroxylase) Accumulation of phenylpyruvic 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 Autosomal recessive in an enzyme that converts tyrosine to thyroxine Severe enlargement of liver in 20s - 30s In early life, dehydration, loss of appetite; jaundice; cataracts; mental retardation; some have impaired balance and motor skills (writing) Autosomal recessive defect in glucose-6-phosphatase Autosomal recessive mutation in galactose-1-phosphate uridyl transferase (GALT) with multiple alleles Organ pain leading to organ damage and failure; heart attack and stroke possible; fatigue Autosomal recessive missense in position 6 of beta globin subunit of hemoglobin Most common reason for Allelic expansion of mental retardation especially in trinucleotide repeats in FMR-1 boys/men gene Treatment Unknown - painkillers, joint replacement Low protein diet with essential amino acid supplements without phenylalanine Thyroid hormone supplements Unknown - high protein diet; infusion of glucose in infants Lactose-free milk substitutes and food Blood transfusion; supplemental oxygen; hydroxyurea Unknown - training to cope
8 9 10 11 Very sensitive to sunlight (UV); 1000 times more likely to develop skin cancer; dry, flaking skin; pigment spots Thick mucus; impaired lung function, digestion by pancreatic enzymes Early life infant has failure to thrive; later toddler develops compulsive overeating; obsessive compulsive disorder; excessive daytime sleepiness Hyperactive; jerky movements; seizures; mental retardation; "happy face" Autosomal recessive mutation in DNA repair genes Autosomal recessive mutation (one of many) in CFTR gene; deletions, single nucleotide substitutions, frameshift mutations are possible; A508 is most common mutation Deletion of the tip of chromosome 15 from father Deletion of the tip of chromosomes 15 from mother Avoid UV sunlight Limited - breathing treatments, digestive enzymes before eating Limited - some experimental drugs for OCD and anti- obesity drugs Limited - anti-seizure medication; physical, communication, and behavior therapy
Join a community of subject matter experts. Register for FREE to view solutions, replies, and use search function. Request answer by replying!