Essential Fructosuria
- Autosomal Recessive
- Defect in fructokinase
- Fructose to fructose 1-P
- Benign
- Fructose appears in blood and urine
- Fructose does not enter cells
Fructose Intolerance
- Deficiency of Aldolase B
- Fructose 1-P To DHAP And GA
- Accumulation Of Fructose-1-Phosphate
- Inhibition Of Glycogenolysis
- Inhibition Of Gluconeogenesis
- Hypoglycemia
- Vomiting
- Jaundice
- Cirrhosis
- Autosomal Recessive
Classic Galactosemia
- Autosomal Recessive
- Galactose-1-phosphate uridyltransferase is Absent (GALT)
- Impaired Galactose-1-P to UDP-Galactose
- Galactitol Accumulation in Lens
- Infantile Cataracts
- Failure to Thrive
- Hepatomegaly
- Jaundice
- Intellectual Disability (Mental retardation)
- Increased Risk E. Coli Sepsis
Galactokinase Deficiency
- Autosomal Recessive
- Galactose to Galactose 1P
- Galactose Appears in Blood and Urine
- Benign
- Infantile Cataracts
- Failure to Develop a Social Smile
Pyruvate Dehydrogenase Deficiency
- Acquired from Thiamine Deficiency
- Backup of Alanine and Pyruvate
- Neurologic Defects
- Lactic Acidosis
- Ketogenic Nutrients
- Lysine and Leucine (Ketogenic Nutrients)
Ornithine Transcarbamylase Deficiency
- Most Common Urea Cycle Disorder
- X-Linked Recessive
- Hyperammonemia
- Decreased BUN
- Carbamoyl Phosphate is Converted to Orotic Acid
- Pyrimidine Synthesis Pathway
- Evident in Babies
Orotic Aciduria
- Autosomal Recessive
- Defect in UMP Synthase
- De Novo Pyrimidine Synthesis Pathway
- Increased Orotic Acid in Urine
- Megaloblastic Anemia
- No Response to B12 or Folate
- Non-Hyperammonemic
- Failure to Thrive
- Oral Uridine Monophosphate
Hyperammonemia
- Hereditary Urea Cycle Defects
- Acquired Through Liver Disease
- Inhibits the Citric Acid Cycle
- Somnolence
- Slurring of Speech
- Tremor
- Cerebral Edema
- Vomiting
- Blurring of Vision
- Limit Protein in Diet
- Lactulose
- Benzoate Binds Amino Acid for Excretion
- Phenylbutyrate
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
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
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
Refsum Disease
- Autosomal Recessive
- Peroxisome Dysfunction
- Increased Phytanic Acid
- Retinitis Pigmentosa
- Hearing Loss
- Polyneuropathy
- Anosmia
- Ataxia
- Genetic Testing
- Dietary Changes
- Plasmapheresis