GENETIC DISORDERS AFFECTING AMINO ACID METABOLISM

Albinism

Tyrosine 3-monooxygenase

results in a congenital hypopigmentation of ocular and systemic tissues.

Alkaptonuria

Homogentisate 1,2-dioxygenase

Argininosuccinicacidemia

Argininosuccinate lyase

Homocystinuria

Cystathionine B-synthase

dislocation of the lens of the eye, causing severely decreased vision

have skeletal abnormalities, including osteoporosis.

Maple syrup urine disease

Branched-chain-&-ketoacid dehydrogenase

•Mutation in dihydrolipoamide dehydrogenase gene (DLD)

most common among Mennonite families.

Phenylketonuria

Phenylalanine 4 mono oxygenase/ hydroxylase

which is toxic to the brain (retarded)

based on a blood test.

Hypervalinemia

Valine transaminase

Cytinosis

Storage and/ore release of cystine from lysosomes

affects kidneys and eyes

inherited in an autosomal recessive pattern

Cystinuria

Renal and intestinal transport of cysteine

Hartnup's disease

Renal transport of neutral AA

Histidinemia

Histidine ammonia lyase

Isovaleric acidemia

Isovaleryl CoA dehydrogenation

TYROSINEMIA

lack of the enzyme fumarylacetoacetate hydrolase (FAH)

Type I tyrosinemia

common among children of French Canadian or Scandinavian descent.
dysfunction of the liver, kidneys, and nerves,

Type II tyrosinemia -less common

restriction of tyrosine in the diet can prevent problems from developing.