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Biochemistry Medical (MD/DO) School Study Aid
Essential Fructosuria
- Autosomal Recessive
- Defect in fructokinase
- Fructose to fructose 1-P
- Benign
- Fructose appears in blood and urine
- Fructose does not enter cells
53 secs
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
Classic Galactosemia
- Pathophysiology
- Autosomal Recessive
- Galactose-1-phosphate uridyltransferase is Absent (GALT)
- Impaired Galactose-1-P to UDP-Galactose
- Galactitol Accumulation in Lens
- Signs and Symptoms
- Infantile Cataracts
- Failure to Thrive
- Hepatomegaly
- Jaundice
- Intellectual Disability (Mental retardation)
- Increased Risk E. Coli Sepsis
2 mins
Galactokinase Deficiency
- Autosomal Recessive
- Galactose to galactose 1P
- Galactose appears in blood and urine
- Benign
- Infantile Cataracts
- Failure to develop a social smile
1 min
Alkaptonuria
- Autosomal Recessive
- Deficiency of homogentisic acid oxidase
- In degradative pathway of tyrosine to fumarate
- Homogentisic acid harmful to cartilage
- Arthritis
- Dark Connective Tissue
- Urine turns black on standing
1 min
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
1 min
Phenylketonuria (PKU)
- Pathophysiology
- Decreased phenylalanine hydroxylase
- Decreased tetrahydrobiopterin cofactor
- Autosomal Recessive
- Tyrosine Becomes Essential
- Phenylalanine found in Nutrasweet
- Symptoms
- Musty or mousy body odor
- Growth retardation
- Seizures
- Intellectual Disability (Mental Retardation)
- Hypopigmentation
2 mins
Maternal Phenylketonuria
- Pathophysiology
- Lack of Proper Diet During Pregnancy; Like NutraSweet
- Signs and Symptoms
- Congenital Heart Defects
- Growth Retardation
- Intellectual Disability (Mental Retardation)
- Microcephaly
1 min
Maple Syrup Urine Disease
- Pathophysiology
- Defect in alpha ketoacid dehydrogenase
- Blocked degradation of branched chain amino acids
- Leucine
- Isoleucine
- Valine
- Signs and Symptoms
- Seizures
- Intellectual Disability (Mental Retardation)
1 min
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)
56 secs
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
2 mins
Cystinuria
- Pathophysiology
- Defect of Renal Tubular Amino Acid Transporter
- C-O-L-A Acronym
- Cystine
- Ornithine
- Lysine
- Arginine
- Signs and Symptoms
- Excess Cystine in Urine
- Hexagonal Crystals
- Staghorn Kidney Stones
- Diagnosis
- Cyanide Nitroprusside Test
- Treatment
- Acetazolamide to Alkalinize the Urine
2 mins
Orotic Aciduria
- Pathophysiology
- Autosomal Recessive
- Defect in UMP Synthase
- De Novo Pyrimidine Synthesis Pathway
- Symptoms
- Increased Orotic Acid in Urine
- Megaloblastic Anemia
- No Response to B12 or Folate
- Non-Hyperammonemic
- Failure to Thrive
- Treatment
- Oral Uridine Monophosphate
1 min
Hyperammonemia
- Pathophysiology
- Hereditary Urea Cycle Defects
- Acquired Through Liver Disease
- Inhibits the Citric Acid Cycle
- Signs & Symptoms
- Somnolence
- Slurring of Speech
- Tremor
- Cerebral Edema
- Vomiting
- Blurring of Vision
- Treatment
- Limit Protein in Diet
- Lactulose
- Benzoate Binds Amino Acid for Excretion
- Phenylbutyrate
4 mins
Homocystinuria
- Pathophysiology
- Autosomal Recessive
- 4 Forms
- Cystathionine Synthase Deficiency
- Decreased Affinity of Cystathionine Synthase For Vitamin B6
- Methionine Synthase Deficiency
- Methylenetetrahydrofolate Reductase (MTHFR) Deficiency
- Signs and Symptoms
- Marfanoid Body Habitus
- Kyphosis
- Lens Subluxation (Inferior)
- Intellectual Disability (Mental Retardation)
- Atherosclerosis
- Consideration
- Dietary Deficiencies Can Elevate Homocysteine Levels
3 mins
G6PD Mechanism
- Turns NADP+ to NADPH
- NADPH Used by Glutathione Reductase
- Detoxifies Free Radicals and Peroxides
- X-linked Recessive
1 min
G6PD Deficiency
- X-linked Recessive
- Hemolytic Anemia
- Inflammatory Response
- Fava Beans
- Sulfonamides
- Primaquine
- Anti TB Drugs
- Heinz Bodies
- Bite Cells
- Prevalent Among African Americans due to Increased Malarial Resistance
1 min
Adenosine Deaminase Deficiency
- Adenosine to inosine
- Excess ATP
- Inhibition of Ribonucleotide Reductase
- Prevents DNA synthesis
- Decreases B Cells and T Cells
- Major cause of SCID
1 min
Lesch-Nyhan Syndrome
- X-linked Recessive
- Absence of HGPRT
- Hypoxanthine to IMP
- Guanine to GMP
- Excess uric acid
- Gout
- Retardation
- Self-mutilation
- Choreoathetosis
- PRPP is increased
1 min
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