Failure to produce Homogentisate 1,2 dioxygenase

Intermediate in Tyrosine metabolism

Black urine

Most common - defective Galactose 1P uridyl transferase

Build up of galactose and byproducts

Results in failure to thrive

Can also be from defective galactokinase

Defective hepatic fructokinase

Fructose can't be converted to F1P

Asymptomatic

Results in fructose in the urine

No fructose 1,6 bisphosphate aldolase

Can be deadly if untreated

autoimmune disorder against beta cells of the pancrease

Little to no endogenous insulin produced

Must treat with injectable insulin

Mutant gene concerning HLA-B27 or insulin (11)

Insulin resistance

Not autoimmune

Faulty gene encoding leptin or insulin receptors

LPH gene encoded on chromo 2

Encodes lactase-phlorizin hydrolase

"Lactose Intolerance"

GI problems

Deficient LPH

Defective phenylalanine hydroxylase

Can't metabolize tyrosine; elevated phenylalanine levels

Causes severe mental retardation

Defective fumarylacetoacetate hydrolase (FAH)

Catalyzes the last step in tyrosine metabolism

Substrate buildup is toxic to the liver

Defective branced chain @ketoacid dehydrogenase (BCKAD)

Can't metabolize BCAAs (valine, isoleucine, leucine)

Untreated leads to neurodegeneration & death

Defective tyrosine aminotransferase

Results in corneal erosion & mental retardation

Defective medium-chain acyl-coenzyme A dehydrogenase (MCAD)

Results in hypoglycemia & cerebral edema

Death unless glucose is admin

Defective long chain L-3 hydroxyacyl-coA dehydrogenase

Affects the 2nd step of long chain fatty acid metabolism

Results in severe defects

mutation in delta-7 sterol reductase

Defective cholesterol synthesis

From defective lysosomal enzymes

Specifically can't breakdown glycosaminoglycans

All types result in chronic multisystem destruction

Defective ATP7B

Results in defective excretion of copper into biliary tract

Leads to liver disease and neuro abnormalities

Most commonly a defective 21-hydroxylase enzyme

CYP21

3 forms; salt-wasting is most common form

Results in salt wasting, hyponatremia, hyperkalemia

Converts Progesterone to deoxycorticosterone & cortisol

Infants present with ambigous genitalia

Typical female external genitalia but internal testis

Infertility

Defective androgen receptor

Peroxisome enzyme disease

Defective B-glucosidase

Results in visceromegaly

Accumulation of urea precursors

Most important is defective arginase

Results in progressive quadriplegia & mental retardation

Iron buildup in organs

Major symptom is fatigue

May be from defective HLA-A3 gene

Defective absorption of zinc from the GI tract

Mutant SLC39A4 for a zinc-transporter protein