Amino acid disorders are important topics for NEET PG because they are a group of inherited genetic disorders that affect the metabolism of amino acids, leading to a variety of health problems. These disorders are significant because they are potentially life-threatening and can lead to intellectual disability, developmental delays, and other serious health issues. Knowledge of amino acid disorders is crucial for NEET PG exam preparation.
Read this blog further and get an overview of this important biochemistry topic.
Glycine transaminase deficient/defective
↑ oxalate in urine
extra renal oxalate deposits
Glycine transporter defect
↑ glycine in urine
Urine oxalate normal
Risk of oxalate stones
Glycine cleavage system defect
↑ glycine in serum, urine and CSF
Enzyme deficient: Phenylalanine hydroxylase
[Phenyl-keto-uria → phenyl- keto acid (phenyl Pyruvate) - in urine]
Mousy/musty body odor (due to phenylacetate)
Severe MR (due to Phenylalanine)
Fecl3 urine test → Green color (d/t Phenyl pyruvate)
Lifelong Restriction of phenylalanine in diet
Aspartame (artificial sweetener) is contraindicated as aspartame is made of Aspartate + Phenylalanine
Give tyrosine & tryptophan
Tetra hydro Biopterin Supplementation helps in some patients
↑ urine Homocystine (made of two homocysteine by S-S bond)
Cyanide nitroprusside test is positive.
Important Information How to distinguish between vit B6, B9 and B12 def
Stay tuned to this blog and get regular updates on our latest medical notes blogs. Also, download the PrepLadder app now and strengthen your NEET PG exam preparation.
Get access to all the essential resources required to ace your medical exam Preparation. Stay updated with the latest news and developments in the medical exam, improve your Medical Exam preparation, and turn your dreams into a reality!