Rare disorders

Question 1

Kwashiorkor

Answer 1

Lack of protein in kids (6mths-3yrs)- oedema and fatty liver, impaired healing and itchy rash but no obvious ribs and subcutaneous fat is preserved; require adequate protein intake

Question 2

Marasmus

Answer 2

Lack of nutrients (proteins and calories) in infants <1yr- will be voracious feeders with no subcutaneous fat, prominent ribs and no oedema- very irritable; require adequate energy intake

Question 3

Phenylketonuria

Answer 3

Protein synthesis defect with impaired conversion of phenylalanine to tyrosine=> increased phenylalanine with neurotoxic events and decreased tyrosine causing low melanin; screened for at birth
Presentation: severe learning disability, seizures, neuro symptoms and lack of melanin
Treatment: low phenylalanine diet and supplementation of tyrosine and AA