MCBG Clinical Conditions

Question 1

What is scurvy?

Answer 1

• Scurvy is a condition which arises due to insufficient Vitamin C (ascorbic acid) intake
• It presents with weakness, fatigue, and sore arms and legs

Question 2

What are malabsorption conditions?

Answer 2

• Malapsorption conditions are caused by the failure to digest and/or absorb ingest nutrients e.g. Coeliac disease and Crohn’s disease
• Under-nutrition may result from eating disorders like anorexia and bulimia nervosa or from reduced availability of food such as in developing countries

Question 3

What is mitochondrial disease?

Answer 3

Mitochondrial disease is an inherited chronic illness involving a group of disorders caused by dysfunctional mitochondria

Question 4

What is Secondary Lactase Deficiency?

Answer 4

• Secondary lactase deficiency is a condition occurring due to injury to small intestine
• It occurs in both infants and adults and is generally reversible

Question 5

What is galactosaemia?

Answer 5

Galactosaemia is a clinical condition wherein one cannot use galactose obtained from the diet because of a lack of the kinase or transferase enzyme

Question 6

What is classic haemophilia?

Answer 6

• Classic haemophilia, is a genetic disorder caused by missing or defective factor VIII which prevents the stimulated activity of factor IXa, a serine protease
• Treatment with recombinant factor VIII

Question 7

What is Down’s Syndrome?

Answer 7

• Down’s Syndrome is a genetic condition arising due to trisomy 21 (third copy of chromosome 21)
• It manifests with characteristic facial features, intellectual disability, heart defects and increased prevalence of leukaemia

Question 8

What is Sickle Cell Anaemia?

Answer 8

Sickle cell anaemia is a haemoglobinopathy which arises due to a single base mutation in the β-chain of haemoglobin (Glu ⇒ Val) causing the blood cells to become rigid and sickle (HbS protein)

Question 9

What is Congenital lactase deficiency?

Answer 9

• Congenital lactase deficiency is an extremely rare condition caused by an autosomal recessive defect in lactase gene
• The infant cannot digest breast milk

Question 10

What is obesity?

Answer 10

• Obesity is a chronic condition characterised by excess body fat and is most often defined on the basis of Body Mass Index (BMI)
• The body weight in most adults represents the balance between energy intake and energy expenditure but other factors also contribute to weight gain e.g. genes, drug therapy, endocrine disorders

Question 11

What are developmental disorders?

Answer 11

Developmental disorders are a group of psychiatric conditions originating in childhood that involve serious mental and physical impairment in different areas

Question 12

What is marasmus?

Answer 12

• Marasmus is a type of protein-energy malnutrition most commonly seen in children < 5
• Patient is emaciated, muscle wasting, loss of body fat, thin & dry hair, diarrhoea (no oedema)

Question 13

What is Huntington’s Disease?

Answer 13

• Huntington’s disease is an inherited neurodegenerative disease, affecting mostly basal ganglia and leading to the degeneration of voluntary motor functions, procedural learning, routines, cognition and emotions
• Symptoms: seizures, abnormal gait, personality change, dementia

Question 14

What is kwashiorkor?

Answer 14

• Kwashiorkor occurs typically in a young child displaced from breastfeeding and fed with a high carbohydrate, very low protein diet
• Patient is apathetic, lethargic, anorexic, anaemic, has generalised oedema and low serum albumin

Question 15

What is Werner Syndrome?

Answer 15

Werner syndrome is a clinical condition involving mutations in the WRN gene leading to DNA replication defects, DNA damage and ultimately, cell growth defects

Question 16

What is Turner’s Syndrome?

Answer 16

• Turner syndrome is a genetic condition occurring when one normal X chromosome is present in a female’s cells and the other sex chromosome is missing / structurally altered (X inactivation)
• It presents with puffy feet, short stature, heart defects, mild learning difficulties, neck webbing, infertility

Question 17

What is Patau syndrome?

Answer 17

• Patau syndrome is a genetic condition arising due to trisomy 13 (third copy of chromosome 13)
• Majority die in neonatal period and it manifests with holoprosencephaly, polydactyly and multiple other congenital abnormalities

Question 18

What is Edwards syndrome?

Answer 18

• Edwards syndrome is a genetic condition arising due to trisomy 18 (third copy of chromosome 18) in maternal meiosis II
• Babies survive for 5-15 days and it manifests with a small lower jaw, prominent occiput, low-set ears, rocker bottom feet and overlapping fingers

Question 19

What is Primary Lactase Deficiency

Answer 19

• Primary lactase deficiency is a condition occurring due to the absence of lactase persistence allele
• It only occurs in adults and has its highest prevalence in Northwest Europe