- Pyruvate Dehydrogenase Deficiency
- Pyruvate Kinase Deficiency
- G6PD Deficiency
- Essential Fructosuria
- Hereditary Fructose Intolerance
- Galactokinase Deficiency
- Lactase Deficiency
- Ornithine Transcarbamylase Deficiency
- Phenylketonuria (PKU)
- Maple Syrup Urine Disease
- Propionic Acidemia
- Lesch-Nyhan Syndrome
- Systemic Primary Carnitine Deficiency
- MCAD Deficiency
Albinism is a disease of hypopigmentation, caused by defects in melanocyte function. Patients have a normal number of melanocytes, but each melanocyte has less melanin.
Albinism can be caused by (1) a defect in the enzyme tyrosinase, which catalyzes the synthesis of melanin from DOPA, or (2) by defective tyrosine transport into melanocytes, as tyrosine is the precursor to DOPA and melanin.
Skin findings are most notable for a lack of pigmentation, which subsequently leads to an increased risk of skin cancer. Albinism patients also have a number of ocular findings, such as impaired visual acuity, strabismus, and nystagmus.
Find this Albinism mnemonic and more mnemonics for Metabolic Disorders among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.