Sean Shared "INTEG Biochem A.A. Metabolism Disorders" - 6 Picmonics
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INTEG Biochem A.A. Metabolism Disorders
- 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
- 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
- Pathophysiology
- Defect in alpha ketoacid dehydrogenase
- Blocked degradation of branched chain amino acids
- Leucine
- Isoleucine
- Valine
- Signs and Symptoms
- Seizures
- Intellectual Disability
- 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
- 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
- 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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