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Sean Shared "INTEG Biochem A.A. Metabolism Disorders" - 6 Picmonics

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INTEG Biochem A.A. Metabolism Disorders

Alkaptonuria
Autosomal Recessive
Deficiency of homogentisic acid oxidase
In degradative pathway of tyrosine to fumarate
Homogentisic acid harmful to cartilage
Arthritis
Dark Connective Tissue
Urine turns black on standing
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1 min
Phenylketonuria (PKU)
Pathophysiology
Decreased Phenylalanine Hydroxylase
Decreased Tetrahydrobiopterin Cofactor
Autosomal Recessive
Tyrosine Becomes Essential
Phenylalanine Found in Nutrasweet
Symptoms
Musty or Mousy Body Odor
Growth Retardation
Seizures
Intellectual Disability
Hypopigmentation
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2 mins
Maple Syrup Urine Disease
Pathophysiology
Defect in alpha ketoacid dehydrogenase
Blocked degradation of branched chain amino acids
Leucine
Isoleucine
Valine
Signs and Symptoms
Seizures
Intellectual Disability
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1 min
Homocystinuria
Pathophysiology
Autosomal Recessive
4 Forms
Cystathionine Synthase Deficiency
Decreased Affinity of Cystathionine Synthase For Vitamin B6
Methionine Synthase Deficiency
Methylenetetrahydrofolate Reductase (MTHFR) Deficiency
Signs and Symptoms
Marfanoid Body Habitus
Kyphosis
Lens Subluxation (Inferior)
Intellectual Disability
Atherosclerosis
Consideration
Dietary Deficiencies Can Elevate Homocysteine Levels
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3 mins
Menkes Disease
X-linked Recessive
Defect in ATP7A
Defective Copper Transporting ATPase 1
Defective Collagen
Clinical Features
Brittle, Kinky Hair
Hypopigmentation
Hypotonia
Developmental Delay
Cerebral Aneurysm
Diagnosis
Genetic Testing
Blood Test
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2 mins
Albinism
albinism
Normal melanocyte number with decreased melanin production
Due to decreased tyrosinase activity or defective tyrosine transport.
Increased risk of skin cancer
Acquired through locus heterogeneity - Mutations at different loci can produce a similar phenotype.
Autosomal recessive
Ocular albinism is X-linked recessive
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