AA Metabolism Diseases Flashcards
Name 15 Amino Acid Metabolism Disorders
- PKU = Phenylketonuria (Classic)
- PKU (Malignant)
- PKU (Maternal)
- Alkaptonuria
- Maple Syrup Urine Disease
- Propionate CoA Carboxylase Deficiency
- Cystathioninuria
- Homocystinuria
- Histidinemia
- Albinism
- Tyrosinosis
- Nonketogenic Hyperglycinemia
- Hereditary Tyrosinemia
- Tyrosinemia 1
- Tyrosinemia 2
What does PKU stand for
Phenylketonuria
How many types of PKU disorders are there & name each one
3 total:
Classic Phenylketonuria
Malignant
Maternal
What AA is involved in PKU Phenylketonurial
Phenylalanine
Draw the structure of Phehylalanine
Provide 1st/3 letter abrev.
F-(Phe)
Confirm
What enzyme is affected in Classic Phenylketonuria
Phenylalanine Hydroxylase
Clinical manifestations of Classic Phenylketonuria
- Mental retardation
- Fair skin
- Mousy odor
- Congenital Pyloric Stenosis
- Screen after 1th exposure to phenylalanine in breast milk
- Restrict Phenylalanine intake
- Increase Tyrosene
- Inherited disorder
- Disorder increases Phenylalanine in the blood
- Phenylalanine is the building block of Proteins
Enzyme affected in Malignant PKU
Dihydrobiopterin Reductase/synthase
Clinical Manifestations of Malignant PKU
- Similar to Classic PKU
- Melatonin & Serotonin Synthesis also compromised
- To..restrict Phenylalanine
- Add Tyrosene
- L-DOPA
- 5-Hydroxytryptophan
Structure of Tyrosene
Tyrosene Structure __confirm once drawn
Y- (Tyr)
Define L-DOPA (3 points)
- Also known as levodopa or L-3,4-dihydroxyphenylalanine is an amino acid that is made and used as part of the normal biology of humans
- L-DOPA is the precursor to the neurotransmitters dopamine, norepinephrine (noradrenaline), and epinephrine (adrenaline), which are collectively known as catecholamines.
- L-DOPA itself mediates neurotrophic factor release by the brain and CNS
Define 5-Hydroxytryptophan
5-Hydroxytryptophan (5-HTP), also known as oxitriptan, is a naturally occurring amino acid and chemical precursor as well as a metabolic intermediate in the biosynthesis of the neurotransmitter serotonin.
Who is affected by Maternal PKU
Mother with either Classic or Malignant Phenylketonuria
Clinical manifestations of Maternal PKU
- Developmental abnormalities
- Microcephaly
- Mother who didn’t maintain strict dietary restrictions during pregnancy
Define Microcephaly
Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.
[1] Microcephaly may be present at birth or it may develop in the first few years of life.
[1] Often people with the disorder have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures, and dwarfism.[1]
How can Tryptophan be obtained & through what sources
Tryptophan increases Serotonins levels
Serotonin plays a large role in mood, sleep, learning, and appetite control.
Low serotonin is widely believed to be a major cause of depression.
Foods: Turkey, Cheeze, nuts, pineapple
What AA is involved in Alkaptonuria
Tyrosine
What enzyme is affedcted in Alkapronuria
Homogentisic Acid or Homogentisate oxidase
Clinical Manifistations of Alkapronuria
- Dark Urine (caused by accumulation of homogentisate which forms polymers which darkens standing urine)
- Degenerative Arthiritis
- Ochronosis
- Darkening of Articular Cartilage
Define Ochronosis
Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues.
.[1] The condition was named after the yellowish (ocher-like) discoloration of the tissue seen on microscopic examination. However, macroscopically the affected tissues appear bluish grey because of a light-scattering phenomenon known as the Tyndall effect.
The condition is most often associated with alkaptonuria but can occur from exogenous administration of phenol complexes like hydroquinone.
What AA are involved in Maple syrup Urinee Disease
- Leucine
- Isoleucine
- Valine
All branched chain AA’s
What enzyme is affected in the Maple Syrup Urine Disease
- Alpha-Keto acid Dehydrogenase
Clinical manifestations of MSU (Maple syrup Urine) Disease
- Elevated levels of Alpha AA & their A-keto analogues in plasma and urine
- High mortality rate
- Neurological problems (mild retardation)