-
Orotic Aciduria
- No Orotic Acid Phosphoribosyltransferase
- Or
- No Orotidine 5 phosphaste decarboxylase
Megaloblastic anemia (B12 and folic acid doesn't help), Increased Oritic Acid, No Hyperammonia
-
Hyperelastic skin
Tendency to Bleed
HyperMobile Joints
Ehlers Danlos Syndrome
Type I and III collage synthesis problems
Berry aneurysms, organ rupture,
-
Mutltiple Fractures
Blue Scelera
Hearing Loss
Dental problems
Osteogensis Imperfecta
Due to problmes in type I collagen formation
Autosomal Dominant
-
Nephritis
Deafness
Ocular Disturbances
Alport Syndrome
Type IV collagen problem
X-linked recessive
-
Two common Elastin problems
- Marfan Syndrome-defect in Fibrillin
- Emphysema-lacked of alpha-antitrypsin
-
X-linked dominent Disorder
Hypophosphatiemic Rickets-increased phosphate wasting at proximal tubule
-
Leber Hereditary Optic Neuropathy
- Degeneration of retinal ganglion cells
- Acute loss of Central Vision
- Mitochondria inheritance
-
Autosomal Dominent Disorders
- Achondroplasia
- ADPKD
- Familial Adenomatous Polyposis
- Femilial Hypercholesterolemia
- Hereditary Hemorrgic Telangiectasia
- Heriditary Sperocytosis
- Huntington's Disease
- Marfan Syndrome
- Multiple Endocrine Neoplasia
- Neurofibromatosis type 1
- Neurofibromatosis type 2
- Tuberous scelerosis
- Von Hippel Lindau Disease
-
Short Limbs
Head and trunk normal size
- Deficient in fibroblast Growth Factor receptor 3 (FGF)
- Associated with advanced paternal age
-
Bilateral massive enlargement of kidneys
Hematuria
Berry Aneurysms
Mitral Valve Prolapse
- Autosomal dominant polycystic kidney disease
- Chromosome 16
- Mutation in APKD1 gene
-
Familial Adenomatous Polyposis
-
Achilles Tendon Xanthomas
Cholestrol > 700
Familial Hypercholesterolemia
-
Recurrent Epitaxis
Skin Discolorations
Ateriovenous Malformations
Small Dilated blood vessels on skin
- Heriditary Hemorrhagic Telangiectasia
- Telangiectasia seen
-
Round RBC
- Hereditary Spherocytosis
- Lack Spectrin or Ankyrin
-
Involuntary rapid jerky movements
Caudate Atrophy
- Huntington Disease
- CAG repeat disorder
- Decreased levels of GABA and ACH
- Chromosome 4
- "Hunting 4 food"
-
Tall individual
Long arms and hands
Long, tapering fingers
Hollowed Chest
- Marfan Syndrome
- Fibrillin Gene mutation-affects connective tissue
- Pectus Excavatum
- Cystic Medial Necrosis of Aorta
- Dissecting Aortic Aneurysm
- Floppy Mitral Valve
- Subluxation of Lense
-
Tumors in:
Pancrease, parathyroid, pituitary, thyroid, adrenal medulla
- Multiple Endocrine Neoplasia
- Ret Gene
-
Light brown colored Spots on skin
Pigmented Iris Hemartoma
Neural tumor
- Neurofibromatosis I
- Scoliosis
- Lisch Nodules (pigmented iris Hemartoma)
- Optic Glioma
- pheochromocytoma
- Chromosome 17
-
Bilateral Neutral Neuroma
Cataracts
- Neurofibromatosis type II
- NF2 gene
- chromosome 22
-
Hypopigmented spots on skin
Cortical Hamartoma
Seizures
Cardiac Rhabdomyomas
- Tuberous Sclerosis
- Retinal hamartoma
- Renal Cyst
- Renal Angiomyolipoma
- Mental Retardation
-
Hemangioblastoma of retinal
Hemangioblastoma of cerebellum
- Hemangioblastoma of medulla
- Bilateral Renal Carcinoma
- Deletion of VHL gene on Chromosome 3
- "3 words for chromosome 3"
-
Thick Mucus
Cl- elevated in the sweat
Recurrent pulmonary infections
- Cystic Fibrosis
- CFTR gene on chromosome 7
- CFTR normally secretes Cl- in lungs/GI and absorbs Cl- from sweat
- Mutation causes abnormal protein folding leading to degradation before it reaches cell surface
- Chronic Bronchitis, Bronchiectasis
- Prancreatic Insufficiency leading to Fat soluble vitame D, A, K , E deficiency
-
X-linked Recessive
Female carriers rarely affected due to inactivation of X chromosome
- Be Wise, Fool's GOLD Heeds Silly Hope
- Bruton's Agammaglobulinemia
- Wiskott Aldrich
- Fabry
- G6PD deficiency
- Ocular Albinism
- Lesch Nyhan
- Duchenne and Becker
- Hunter's Syndrome
- Hemophilia A and B
-
Weakness in pelvic girdle muscles
Hypertrophy of Calf Muscles
Uses Hands to help stand up
Increased CPK
- Duschenne's Muscular Dystrophy
- Deletion of Dystrophin Gene->muscles can't anchor->muscle breakdown
- Cardiac Myopathy
- Becker's Muscle Dystrophy=much milder
-
Enlarged Testes
Large everted ears
Large Law
Long Face
- Fragile X Syndrome
- FMR1 Gene
- Macro-orchidism (enlarged testes)
- Mitral valve prolapse
-
Triplet Repeat Disorders
- Hunting's Disease (CAG)
- Myotonic Dystrophy (CTG)
- Fragile X (GGG)
- Friedreich's Ataxia=GAA
-
Down's Syndrome Features
- Flat Face
- Epicanthal Folds
- Palmar Crease
- Duodenal Atresia
- Septum Primum ASD
- Inreased Alzheimer Disease
-
Clenched Fist
Small jaw
- Trisomy 18 "Election age is 18"
- Edward's Sydrome
- Micrognathia (small jaw)
- Rocker bottom feet
- low set ears
- congeital hear defect
-
Cleft Lip
Extra finger
- Trisomy 13 "Pubery at 13"
- Patau's syndrome
- Mental Retardation
- rocker bottom feet
- small head
- Cleft palate
- No forebrain (holoprosencephaly)
-
Deletion of short arm of chromosome 5
High pitched crying
- Cri-du-cat syndrome
- Small head
- Picanthal Folds
- Cardiac Abnormality
- Mental Retardation
-
Deletion of long arm of chromosome 7
Elf Face
Hypercalcemia
- William's Syndrome
- Hypercalcemia-due to increased sensitivity to vit. D
- Good verbal skills
- extreme friendliness with strangers
- Cardio problems
-
Chromosome 22 microdeletion
- CATCH 22
- Cleft palate
- Anormal Face
- Thymic asplasia->T cell deficiency
- Cardiac Defect
- Hypocalcemia-due to parathyroid aplasia
-
DiGeorge syndrome
- Thymic Aplasia
- Parathyroid Aplasia
- Cardiac Problems
- Chromsome 22
-
Velocardiofacial Syndrome
- Palate Defect
- Face Defect
- Cardiac Defect
- Chromosome 22
-
Hartnup Disease
- Defective Neutral amino acid Transport on renal cells and GI cells
- Tryptophan Excretion in urine
- Leads to Pellagra-> since niacin is made from tryptophan
-
Increased alpha-ketoacids in blood
- Maple Syrup Disease
- Due to decreased alpha-ketoacid dehydrogenase
- AA include: Isoleucine, Leucine, Valine
-
Glucose 6 phosphatase deficiency
- Von Gierke Disease
- Increased Glycogen in liver
- Increased blood lactate
- Hepatomegaly
-
Lysosomal alpha-1-4-glucosidase Deficiency
- Pompe's Disease
- Cardiomegaly
- "Pompe trashes the pump"
-
Decreased alpha-1,6 Glucosidase
- Cori's Disease
- Increased glycogen in liver
- Normal Lactate levels (unlike von gierke)
- 4 glucose residues in branched configuration (limit Dextran)
-
Muscle Cramps with excercise
Increased glycogen in Muscle
- McArdle's Disease
- Skeletal muscle glycogen Phosphorylase Deficiency
- Myoglobinuria with excercise
-
Ceramide Accumulates
- Fabry's Disease
- X-linked recessive
- Alpha-galactosidase A deficiency
- Peripheral neurpathy of hands and Feet
- Angiokeratomas
-
Glucocerebroside Accumulates
Necrosis of Femur with no bacteria in blood
- Gaucher's Disease
- B-Glucocerebrosidase Deficiency
- Macrophages that look like crumpled tissue paper
-
-
Sphingomyelin Accumulation
- Nieman Pick Disease
- Sphingomyelinase deficiency
- Cherry Red Spot on macula
- Neurodegeneration
- Hepatospenomegaly
- Foam Cells
-
GM Ganglioside accumulates
- Tay-Sach Disease (tay-saX)
- Hexoaminidase A deficiency
- Cherry Red Spot
- Neurodegeneration
- No hepatospenomegaly (unlike niemann pick)
-
Galactocerebroside Accumulates
- Krabbe's Disease
- Galactocerebrosidase deficiency
- Peripheral Neuropathy
- Optic Atrophy
- Globoid Cells
-
Cerebroside Sulfate Accumulation
- Metachromatic Leukodystrophy
- Arylsulfatase A deficiency
- Central and peripheral demyelination
- Ataxia
- Dementia
-
Alpha-L-iduronidase Dificiency
- Hurler's Syndrome
- Heperan Sulfate and Dermantan Sulfate Accumulate
- Corenal Clouding (unlike hunter's)
- Gargoylism
- Airway Obstruction
-
Iduronate Sulfatase Deficiency
- Hunter's Disease
- Heperan Sulfate and dermatan Sulfate accumulate
- Aggressive Behavior
- No corneal clouding (unlike hurler's)
- "hunters have to see clearly)
-
No Apo C II
- Hyperchylomicronemia
- Increased TG
- Increased Cholestrol
- Pancreatitis
- Xanthomas (no risk for CAD)
- Hepatospenomegaly
-
Lipoprotein Lipase Deficiency
- Hyperchylomicronemia
- Increased Chylomicrons
- Increased TG
- Increased Cholestrol
- Pancreatitis
- Xanthomas (no risk for CAD)
- Hepatospenomegaly
-
no LDL receptors
- Familial Hypercholestrolemia
- Increased LDL
- Elevated Cholestrol
- Normal TG
- Achilles Tendon Xanthoma
- Corneal Arcus
- Autosomal Dominant
-
Hypertriglyceridemia
- Increased VLDL
- Increased blood TG
- Hepatic Overproduction of VLDL
- Causes Pancreatitis
-
Accumulation of lipid in enterocytes
- A-beta lipoproteinemia
- Can't make apoB 100 (binds LDL, mediate VLDL secretion)
- Can't make apoB 48 (mediates chylomicron secretion)
-
Apo A-1
- Activates lecithin cholesterol acyltransferase (LCAT)
- Needed for the esterification of cholestrol
-
ApoB-100
Binds LDL to Mediate VLDL secretion
-
Apo C II
Activates Lipoprotein Lipase
-
Apo B48
Mediates Chylomicron Secretion
-
Apo E
Mediates Extra remnant uptake
-
Glycine Products
- Porphyrin -> Heme
- Requires B6 (pyroxidine phosphate)
-
Tryptophan Products
- Niacin
- Serotonin
- Melatonin
- Requires B6 (pyroxidine phosphate)
- Requires BH4 (which requires dihydropterin reductase)
-
Arginine Products
- Nitric Oxide
- Creatine
- Urea
- Requires dihydropterin reductase
-
Glutatamate products
- GABA (requires B6 and glutamate Decarboxylase)
- Glutathione
-
Obligate Aerobes
- Nocardia
- Pseudomonas Aeruginosa
- M. Tuberculosis
- Bacillus
- "Nagging Pests Must Breath"
-
Obligate Anaerobes
- Clostridium
- Bacteroides
- Actinomyces
- "Can't Breath Air"
-
-
Facultative Intracellular
- Salmonella
- Neisseria
- Brucella
- Mycobacterium
- Listeria
- Francisella
- Legionella
- "Some Nasty Bugs May Live FacultativeLy)
-
Quellung Reaction
- Indicates Encapsulated bacteria
- Klebsiella Pneumonia
- Salmonella
- Streptococcus Pneumoniae
- Haemophilus Influenzae B
- Neisseria Meningitidis
- "Kapsules Shield SHiN"
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