too little copper --> enzyme dysfunction

mutation on ATP7A

X-linked recessive disorder

mental retardation, seizures, death in childhood

mutation on APT7B

autosomal recessive disease

excess copper

progressive liver disease and neurological abnormalities

any disease associated with too much iron storage

autosomal recessive

iron accumulates in joints, kidneys, pancreas, heart, liver

common symptom: fatigue 

deficiency of lysosomal enzyme glucosylceramidase --> accumulation of glucosylceramide

3 types

most common metabolic disorder in humans

visceromegaly, multiorgan failure, debilitating skeletal defects 

MPS disorder

course facial features, upper airway obstruction, and cardiac diseases 

deficiency of iduronate sulfate 

MPS disorder

mild/severe phenotypes

course facial features, short stature, skeletal deformities, joint stiffness, mental retardation

defecit of cortisol synthesis --> virilization of males and masculine genetalia in females 

diminished activity of 21-hydrolase

deficiency in that enzyme as a result of fatty acid metabolism 

seen after fasting

hypoglycemia

lethargy, cerebral edema, encephalopathy, death

defects in branched chain alpha-ketoacid dehydrogenase

Accumulation of BCAA (Branched chain amino acids) causes progressive neurodegeneration and death

Treatment consists of restricting dietary intake of BCAAs to a minimal level

autosomal recessive 

Deficiency of FAH (fumarylacetoacetate hydrolase)

accumulation of the substrates of FAH leads to neurological, kidney, and liver dysfunction 

kidney transplant = treatment --> but things that block production of FAH is effective 

mutation of a gene encoding phenylalanine hydroxylase (which causes hyperphenylalanemia)

birth defects and mental retardation in pregnant mothers

treatment: phenylalanine restricted diet =(

asymptomatic deficiency of fructokinase

Hereditary fructose intolerance is less prevalent but is associated with much more severe problems.  

one of the most common disorders of carbohydrate metabolism

Mutations in the gene that encodes GAL-1-P uridyl transferase

Newborn screening for galactosemia is widespread. 

Early identification allows prompt treatment which consists largely of eliminating dietary galactose 

homogentisic acid an intermediate metabolite in phenylalanine and tyrosine metabolism is excreted in large quantities in urine causing it to darken

"black urine disease"

contingent on the degree of barrier disruption as well as the compartment through which normal traffic is compromised

ie. cystinuria, cystinosis