Amino Acid Metabolism Disorders Flashcards
PKU MSUD Albinism Homocystinuria
Patient having PKU has what kind of urine odor
A musty odor of urine
PKU is caused due to
BH4 deficiency
Dihydrobiopterin reductase deficiency
PAH deficiency
AAs level changed in PKU
High levels of Phenylalanine
Low levels of Tyrosine
What is MSUD?
An autosomal recessive disease caused by Branched-chain alpha ketoacid dehydrogenase (BCKD) defieciency
Symptoms of MSUD are
Vomiting Muscle tone changed Feeding problems Ketoacidosis Coma
Patient with MSUD has what kind of urine odor?
Maple syrup-like odor of urine
What stuff is high in MSUD?
alpha-keto acids of the corresponding branched-chain amino acids are high
What are the names of branched-chain amino acids?
Valine
Leucine (Coma in MSUD)
Isoleucine (Maple syrup-like odor of urine)
Treatment of MSUD
A synthetic formula that is free of BCAA
PKU neurological symptoms
Seizures
Developmental Delay
Low IQ
Microcephaly
If PKU is not treated, is there hypopigmentation or hyperpigmentation?
Hypopigmentation
Fair Hair color, Light skin color, and blue eyes.
Ehlers-Danlos syndrome is a deficiency of
Lysl hydrolase (Hydroxylation) N procollagen peptidase (Production of Tryptophan is reduced)
Symptoms of Ehlers-Danlos syndrome
Loose skin
Hypermobility of joints
Homocystinuria is characterized by
Ectopia lentis
Long Limbs and fingers
Intellectual disability
High risk of developing blood clots
Treatment of Homocystinuria
Restriction of methionine and supplementation of B12 and folate. Give them B6 too.
