Week 9: Inherited Metabolic Disorders Flashcards
What is metabolism?
The sum of all the chemical reactions in the body
What are a majority of Inherited Errors in Metabolism?
Autosomal Recessive Inheritance
some are X linked/ Mitochondrial
Biomolecule Inheritance
Protein
Carbohydrate
Lipid
Nucleic Acids
Organelle Diseases
Lysosomes
Mitochondria
Peroxisomes
Unexplained Symptoms that could suspect metabolic disorder
Poor feeding Vomiting Apnea Irritability Jaundice Abnormal Tone Seizures Developmental delay Mental Retardation Urine Odor Dysmorphism Hiccoughs
What happens in the liver?
Glucose Breakdown (glucolysis) Glucose Synthesis (gluconeogenesis) Glycogen breakdown (glycogenolysis) Glycogen Synthesis (glycogenosis)
What are the 3 important steps in the diagnosis and management of IEM?
Suspicion
Evaluation
Treatment
Suspicion
The possibility of IEM; the symptoms are very common and non specific
Evaluation
History: H/o deterioration after an initial period of good health; developmental delay
Odor of Phenylketonuria
Musty, mousy
Odor of Tyrosinemia
Musty, Cabbage like
Odor of Maple Syrup urine diseases
Sweet, Maple syrup
Odor of Isovaleric Acidemia
Sweaty Feet
Odor of Multiple Carboxylase Deficiency
Cat Urine
Treatment for IEM
- Dietary Restriction
- Supplemental Deficient Product
- Stimulate Alternative Pathway
- Supply Vitamin Co-Factor
- Organ Transplantation
- Enzyme Replacement Therapy
- Gene Therapy
