Biochemistry · MU Sofia

38.Enzymopathies related to Amino Acids

Covers enzymopathies linked to amino acid metabolism, opening with a three-type classification of silent, acute crisis and progressive neurological disorders. It then takes phenylketonuria, alkaptonuria and methylmalonic aciduria in turn, giving the enzyme defect, clinical features and management for each. Further sections cover amino acids converted into NAD+, thyroid and catecholamine hormones, melanins and creatine phosphate, followed by albinism, Parkinson's disease and a set of multiple-choice questions with answers.

Inside: 11 sections · 8 labelled pictures · 10 flashcards · 4 min

Topic 38 of 70 in the MU Sofia syllabus for Biochemistry (Medicine, Year 2). The free AceMed note covers it in 7 sections, about 558 words (4 min of reading), with 10 flashcards.

In this note

  1. ENZYMOPATHIES RELATED TO AMINO ACIDS METABOLISM
  2. 3 TYPES
  3. CONVERSION OF AMINO ACID TO SPECIALIZED PRODUCTS
  4. ALBINISM
  5. PARKINSON’S DISEASE
  6. MCQS
  7. ANSWERS

ENZYMOPATHIES RELATED TO AMINO ACIDS METABOLISM

Enzymopathies are diseases caused by defects in the enzymes involved in metabolic pathways, leading to serious health problems.

3 TYPES

Type 1: Silent disorders.

-> Do not manifest life threatening crisis but if untreated will lead to brain damage and developmental disabilities. Example is PKU.

Type 2: Acute metabolic crisis.

-> Life threatening in infancy. Example is Urea Cycle Disorders.

Type 3: Neurological deterioration.

-> Progressive neurological deterioration. Example is Tay Sachs disease and Gaucher’s disease.

ENZYMOPATHIES RELATED TO AMINO ACIDS METABOLISM

Phenylketonuria (PKU):

  • Caused by a deficiency in the enzyme phenylalanine hydroxylase.
  • Leads to high levels of phenylalanine in the blood, which can result in intellectual disabilities, behavioural problems, and mental disorders if untreated.
  • Treatment typically involves a diet low in phenylalanine.

ENZYMOPATHIES RELATED TO AMINO ACIDS METABOLISM

Alkaptonuria:

  • Results from a deficiency in the enzyme homogentisate dioxygenase.
  • It causes the accumulation of homogentisic acid, which can lead to darkening of the urine, arthritis, and heart disease.
  • There is no cure, but treatment focuses on managing symptoms and complications.

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