genitalia
•Autosomal recessive
Sphingomyelinase Deficiency
•Niemann-Pick Disease
•Ashkenazi Jewish Population
•Diminished visual acuity
• Sphingomyelin and cholesterol accumulation in lysosomes of brain cells, and reticuloendothelial cells in bone marrow, spleen and liver
• “Foam cells”; Cherry red spots on macula
•Autosomal recessive
Tyrosinase Deficiency
•Albinism
•Tyrosine is not converted to melanin
•Skin cancers
UDP-Glucuronyl Transferase Deficiency
•Crigler-Najjar Syndrome, Type I
•Early onset
•Increased unconjugated bilirubin; Jaundice, kernicterus, death at early age
•Autosomal recessive
UDP-Glucuronyl Transferase Deficiency
•Gilbert’s Syndrome
•Mild decrease in UDP-glucuronyl transferase activity
•Mild unconjugated bilirubinemia
•Jaundice
•Moderately dark urine
•Autosomal dominant
Uroporphyrinogen III Co-Synthetase Deficiency
•Congenital Erythropoietic Porphyria (EPP)
•Heme synthesis affected
•Increased serum and urine uroporphyrins and coproporphyrins
•Marked hemolytic anemia
•Marked photosensitivity
•Most fatal porphyria
•Red teeth
•Autosomal recessive
Uroporphyrinogen III Synthetase Deficiency
•Acute Intermittent Porphyria
•Prototype of porphyrias
•Mostly in females
•Low or moderate photosensitivity
•Colicky attacks
•Precipitated by drugs
•[AD]
Uroporphyrinogen Decarboxylase Deficiency
•Porphyria Cutanea Tarda
•Mostly acquired with late onset (often after 55 years of age)
•Most common porphyria
•Mostly in men and mostly acquired
•No acute attacks
•Serious photosensitivity
•History of alcoholism
•Skin rash
Xanthine Oxidase Deficiency
•Hereditary Xanthinuria
•Hypoxanthine is not converted to uric acid
•Hypo-uricemia
•Autosomal recessive
The Mavericks of Basic Sciences: The Odd Concepts
The Oddballs of Basic Medical Sciences
The oddballs are the exceptions to the rules. Even though they are classified as members of particular classes of basic science entities, they differ from the rest of their class members in some important ways. In a sense, they both belong and do not belong to their classes. They are those members of each class that are distinguished from the rest. They are the “Ugly Ducklings” and “Rudolph-the Red-Nose-Reindeers” of the basic sciences. Test makers love them. That’s why we have them here for you.
ANATOMY
•All GI tract organs have a submucosal layer EXCEPT Gallbladder
•All CNS innervation is contralateral Except for the Cerebellum
•Motor nerves cross contralaterally EXCEPT in the upper half of the face (Forehead is bilateral).
•All postganglionic sympathetics are adrenergic EXCEPT those to the sweat glands (which are cholinergic).
•All Postganglionic sympathetic cells are neurons and release nor-epinephrine onto the effector organs, EXCEPT adrenal medulla that is analogous to a post-ganglionic cell (but releases epinephrine into blood).
•Adrenal is the only gland with direct sympathetic innervation.
•All sympathetic pathways use two nerves--pre and Postganglionic EXCEPT the pathway involved in Horner’s syndrome that uses three neurons.
•Esophagus DOES NOT have a serosa.
•Posterior cricoarytenoid is the only muscle that opens glottis
•All muscles of the tongue (---glossus muscles) are supplied by hypoglossal nerve EXCEPT for the palatoglossus (innervated by vagus, CN X).
•Vagus is the only nerve that wires laryngeal muscles
•All intrinsic muscles of larynx are supplied with recurrent laryngeal nerve EXCEPT cricothyroid.
•All muscles of the perineum attach to a bone EXCEPT the bulbospongiosus (bulbocavernosus).
•All muscle connecting scapula to humerus are in the shoulder area EXCEPT coracobrachialis which is mainly in the arm
•All clinical features of spinal cord hemisection (paralysis of movement, hyperreflexia, spasticity, loss of vibration, weakness, atrophy, loss of sweating, etc.) are ipsilateral and caudal to the level of lesion EXCEPT loss of pain and
