A 5-day-old child presents with intractable seizures. He had rashes all over the body. Blood examination showed hyperammonemia and lactic acidosis. The probable diagnosis is –
Correct Answer: Organic aciduria
Description: Organic aciduria (organic acidemia)
Organic aciduria is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino acids (isoleucine, leucine, valise) causing a build of acids which are usually not present.
The main types of organic acidemia are : -
i) Methylnzalonic acidemia
ii) Propionic acidenzia
iii) Isoavleric acidemia
iv) Maple syrup urine disease
vi) Giutaric acidemia
v) Combined (multiple) carboxylase deficiency
Clinical manifestations
Neurological damage → Mental retardation, Seizures, Lethargy, Vomiting.
Developmental delay
Hypoglycemia
Ketoacidosis
Malnutrition
Hypotonia
Hyperammonemia
Poor feeding and slow growth
Metabolic acidosis (Lactic acidosis)
Rash, alopecia and ataxia in some organic aciduria.
Mitochondrial encephalopathy (MELAS)
Encephalopathy
Lactic acidosis
Stroke-like episodes → Blindness, paralysis, vomiting.
Disorders of the urea cycle
Ammonia is mostly derived from the catabolism of amino acid and is converted to an amino group in urea by enzymes of the urea cycle.
So, defects in enzymes of urea cycle cause →
i) Hyperammonemia
ii) Encephalopathy
iii) Vomiting
Category:
Pediatrics
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now