Question

WHAT IS THE DIAGNOSIS? 1) Patient 1 History: o Seven year-old male o Fatigue o Muscle weakness Low endurance Loss of coordination Progressive difficulty walking Physical Examination o Muscle loss & deformity o Awkward gait o Difficulty breathing o Laboratory Results Cells have abnormal shape o Cell division is abnormal Impaired intracellular movement of materials Diagnosis o Malfunctioning Organelle: • Rationale for Diagnosis (explanation of how history, physical examination and laboratory results suggest diagnosis):

Answer 1

1) Malfunctioning organelle- microfilament

Rationale: Microfilament is a part of the cytoskeleton. The cytoskeleton is responsible for the division of chromosomes, movement of materials and muscle contraction. Malfunction in this leads to all of the symptoms mentioned above.

2) Diagnosis: Arsenic Poisoning

Malfunctioning organelle: Mitochondria

Rationale: Mitochondria is the powerhouse of the cell thus produces all the energy. High levels of arsenic in the blood and abnormal cell death indicate arsenic poisoning which affects the mitochondria.

3) Diagnosis: Zellweger syndrome

Malfunctioning organelle: Peroxisomes

Rationale: Peroxisomes are responsible for breakdown of fatty acids, production of bile and protein and lipid biosynthesis.

4) Malfunctioning organelle: Smooth Endoplasmic Reticulum

Rationale: The main functions of smooth ER is the synthesis of lipids, hormones, detoxify harmful metabolic byproducts and to store and metabolize calcium ions.