Ken Shared "BioChem Mobile test" - 78 Picmonics
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BioChem Mobile test
Vitamin A (Retinol) Toxicity
- Signs and Symptoms
- Alopecia
- Vision Changes
- Headache
- Skin Changes
- Hyperlipidemia
- Hepatotoxicity
- Arthralgias
- Teratogen
- Cleft palate
- Cardiac Abnormalities
3 mins
Vitamin B12 (Cobalamin) Deficiency Causes
- Causes
- Vegans
- Pernicious Anemia
- Gastric Bypass Surgery
- Malabsorption
- Sprue
- Enteritis
- Crohn's Disease
- Diphyllobothrium latum
4 mins
Ornithine Transcarbamylase Deficiency
- Pathophysiology
- Most Common Urea Cycle Disorder
- X-Linked Recessive
- Signs and Symptoms
- Hyperammonemia
- Decreased BUN
- Carbamoyl Phosphate is Converted to Orotic Acid
- Pyrimidine Synthesis Pathway
- Evident in Babies
3 mins
Myotonic Dystrophy
- Pathophysiology
- Autosomal Dominant
- Trinucleotide Repeat
- CTG
- Signs and Symptoms
- Facial Muscle Weakness
- Frontal Balding
- Sustained Grip
- Conduction Defects
- Cataracts
- Selective Atrophy of Type 1 Fibers
- Testicular Atrophy
2 mins
Huntington's Disease
- Pathophysiology
- Autosomal Dominant
- Trinucleotide Repeat
- CAG Repeats
- Chromosome 4
- Anticipation
- Caudate
- Decrease of ACh
- Decrease of GABA
- Signs and Symptoms
- Chorea
- Dementia
- Depression
- Glutamate Toxicity
- Neuronal Death via NMDA Binding
3 mins
Hartnup Disease
- Pathophysiology
- Autosomal Recessive
- Neutral amino acids
- Defective Transporter
- Renal and Intestinal cells
- Signs and Symptoms
- Causes tryptophan excretion in urine
- Leads to Pellagra
- Diarrhea
- Dermatitis
- Dementia
2 mins
Gauchers Disease
- Pathophysiology
- Autosomal Recessive
- Beta Glucocerebrosidase Deficiency
- Diagnosis
- Lipid-laden Macrophages
- Crumpled Tissue Paper
- Signs and Symptoms
- Osteoporosis
- Bone Crises
- Aseptic Necrosis of Femur
- Erlenmeyer Flask Deformity
- Hepatosplenomegaly
- Pancytopenia
2 mins
Fructose Intolerance
- Pathophysiology
- Deficiency of Aldolase B
- Fructose 1-P To DHAP And GA
- Accumulation Of Fructose-1-Phosphate
- Inhibition Of Glycogenolysis
- Inhibition Of Gluconeogenesis
- Clinical Features
- Hypoglycemia
- Vomiting
- Jaundice
- Cirrhosis
- Autosomal Recessive
2 mins
Vitamin K
- Sources
- Dark Green Leafy Vegetables
- Synthesized by Intestinal Flora
- Mechanism
- Activated by Epoxide Reductase
- Gamma Carboxylation of Glutamate
- Activation of Clotting Factors II, VII, IX, X, Protein C and S
- Considerations
- Deficiency with Broad Spectrum Antibiotics
- Neonatal Hemorrhage with Increased PT and aPTT
- Warfarin is a Vitamin K Antagonist
4 mins
Edwards Syndrome
- Pathophysiology
- Trisomy 18
- Signs and Symptoms
- Intellectual Disability (Mental Retardation)
- Rocker Bottom Feet
- Ventricular Septal Defect (VSD)
- Clenched Hands
- Overlapping Fingers
- Low-Set Ears
- Micrognathia
- Prominent Occiput
- Omphalocele
- Meckel's Diverticulum
- Horseshoe Kidney
- Malrotation of Intestines
3 mins
Patau Syndrome
- Pathophysiology
- Trisomy 13
- Signs and Symptoms
- Severe Intellectual Disability
- Microcephaly
- Holoprosencephaly
- Microphthalmia
- Polydactyly
- Cleft Lip/Cleft Palate
- Rocker Bottom Feet
- Omphalocele
- Cystic Kidneys
- Ventricular Septal Defect (VSD)
2 mins
Vitamin B6 (Pyridoxine)
- Pyridoxal Phosphate
- Mechanism
- Transamination
- Decarboxylation
- Glycogen Phosphorylase
- Cystathionine Synthase
- Functions
- Heme Synthesis
- Niacin Synthesis
- Neurotransmitter Synthesis
2 mins
Pyruvate Dehydrogenase Deficiency
- Characteristics
- Acquired from Thiamine Deficiency
- Backup of Alanine and Pyruvate
- Symptoms and Complications
- Neurologic Defects
- Lactic Acidosis
- Interventions
- Ketogenic Nutrients
- Lysine and Leucine (Ketogenic Nutrients)
57 secs
Riboflavin (Vitamin B2)
- Classification
- Vitamin B2
- Biochemistry
- FAD
- FAD Makes 1.5 ATP
- Succinate to Fumarate
- DEFICIENCY
- Glossitis
- Cheilosis
- Corneal Vascularization
2 mins
Hurler Syndrome
- Pathophysiology
- Autosomal Recessive
- Mucopolysaccharidoses
- Alpha-L-Iduronidase Deficiency
- Increased Heparan Sulfate
- Increased Dermatan Sulfate
- Signs and Symptoms
- Hepatosplenomegaly
- Developmental Delay
- Gargoylism
- Corneal Clouding
- Airway Obstruction
2 mins
Vitamin D Deficiency
- Signs & Symptoms
- Rickets in children
- Bending bones
- Rachitic rosary
- Breast milk has decreased vitamin D
- Osteomalacia in adults
- Tetany from Hypocalcemia
2 mins
Niemann-Pick Disease
- Pathophysiology
- Autosomal Recessive
- Sphingomyelinase Deficiency
- More Common in Ashkenazi Jewish Population
- Signs and Symptoms
- Cherry Red Spot on Macula
- Hepatosplenomegaly
- Neurodegeneration
- Diagnosis
- Foam Cells
1 min
Cri Du Chat
- Pathophysiology
- Congenital Deletion of Short Arm of Chromosome 5p
- Signs and Symptoms
- High Pitched Cry/Mewing
- Microcephaly
- Hypotonia
- Difficulty Sucking and Swallowing
- Epicanthal Folds
- Widely Spaced Eyes
- Wide & Flat Nasal Bridge
- High Arched Palate
- Intellectual Disability
- Cardiac Abnormalities
3 mins
Vitamin B6 (Pyridoxine) Deficiency
- Deficiency From Isoniazid
- Deficiency From Oral Contraceptives
- Seizures
- Hyperirritability
- Peripheral Neuropathy
- Sideroblastic Anemia
3 mins
Pompe Disease
- Pathophysiology
- Type II Glycogen Storage Disease
- Autosomal Recessive
- Deficiency of Lysosomal Alpha 1,4 Glucosidase
- Acid Maltase
- Signs and Symptoms
- Hypertrophic Cardiomyopathy
- Hepatomegaly
- Macroglossia
- Hypotonia
- Diagnosis
- Increased Glycogen within Lysosomes
- Increased Lactate Dehydrogenase (LDH)
- Increased Creatine Kinase (CK/CPK)
2 mins
