Metabolic Medicine - TAS

Question 1

Acute encephalopathy within the first month

Answer 1

Maple Syrup Urine Disease

Question 2

Investigations for MSUD

Answer 2

Hypoglycaemia, Metabolic acidosis, urine and blood amino acid screen (raised leucine, isoleucine and valine)

Question 3

Presents with acute encephalopathy and a raised ammonia level

Answer 3

Organic aciduria (e.g. propionic acidaemia or methyl-masonic academia)

Question 4

A defect in the conversion of fatty acids to ketone bodies

Answer 4

Fatty acid oxidation defects (e.g. MCAD or carnitine deficiency) - ketone production is impaired therefore these present with hypoglycaemia and slightly raised ammonia

Question 5

Presents with acute hypoketotic hypoglycaemic encephalopathy when fasting with associated hepatomegaly and cardiac myopathy

Answer 5

MCAD

Question 6

Associated with SIDS

Answer 6

MCAD

Question 7

Acute encephalopathy after the first day with raised blood ammonia + normal glucose

Answer 7

Urea cycle defects (e.g. ornithine transcarbamylase deficiency - OTC deficient)

Question 8

Associated with pulmonary haemorrhage

Answer 8

Urea cycle defects (e.g. OTC deficiency)

Question 9

Examples of lactic acidosis

Answer 9

G6PD, Von Gierke Disease, Type 1 glycogen storage disease

Question 10

Suspect if presents with fits in the first few days which are not adequately controlled with anti-convulsants

Answer 10

Pyridoxine Deficiency

Question 11

Features of Marfan syndrome

Answer 11

Normal IQ, lens dislocation (up and inwards), Normal bone density. joint laxity, high arched palate, tall stature

Question 12

Features of Homocystinuria

Answer 12

Autosomal recessive, tall stature, low IQ in most, lens dislocation (down and outwards), increased risk of thrombosis, osteoporosis and joint stiffness

Question 13

Causes of proteinuria with an absent red reflex

Answer 13

Galactosaemia, Wilson disease, Nephrotics treated with long term steroids

Question 14

Examples of lysosomal storage diseases

Answer 14

Mucopolysaccharidoses (Hunter syndrome, Hurler syndrome), Tay-Sachs Disease, Gaucher Disease, Niemann-Pick DIsease

Question 15

Somatic features (coarse facial features, short stature, hepatosplenomegaly), cardiomyopathy, developmental delay and cloudy corneas

Answer 15

Hurler Syndrome

Question 16

Somatic features (coarse facial features, short stature, hepatosplenomegaly), cardiomyopathy, developmental delay and clear corneas

Answer 16

Hunter Syndrome

Question 17

Cherry Red Spots, gradual developmental decline and commoner in Ashkenazi Jews

Answer 17

Tay-Sachs Disease

Question 18

Accumulation of Sphingomyelin

Answer 18

Niemann-Pick Disease

Question 19

Hepatosplenomegaly, skin pigmentation and mental retardation

Answer 19

Niemann-Pick Disease

Question 20

Microcephaly, mental retardation, eczema, “mousy” smell to the urine, bond hair and blue eyes

Answer 20

Phenylketonuria (PKU)

Question 21

Raised serum phenylalanine levels in the infant

Answer 21

PKU

Question 22

Deficiency of Galactose-1-phosphate uridyl transferase (GALPUT) - meaning galactose cannot be converted into glucose

Answer 22

Galactosaemia

Question 23

Presents with poor feeding, vomiting, diarrhoea, hepatomegaly and jaundice in babies

Answer 23

Galactosaemia

Question 24

Test for Galactosaemia

Answer 24

Reducing substances in the urine (positive cliniTEST and negative cliniSTIX)

Question 25

Low phosphate, normal PTH, normal vitamin D levels, mildly elevated ALP

Answer 25

X-linked hypophosphataemia

Question 26

What type of infection are patients with Galactosaemia most at risk of?

Answer 26

E.coli

Question 27

What is the acute management of urea cycle disorders?

Answer 27

Temporary feeding discontinuation
Hydration with IV 10% dextrose
Commence IV sodium benzoate (helps to remove ammonia from the ciruclation)

Question 28

How are leucocyte adhesion deficiencies detected?

Answer 28

Flow cytometry measures of CD11b

Question 29

Presents with hypoglycaemia with high ketones, high lactate and high ammonia?

Answer 29

Organic Acidaemia (e.g. propionic acidaemia)

Question 30

Presents with altered consciousness with high ammonia, normal glucose and normal-high lactate?

Answer 30

Urea cycle disorders

Question 31

Characterised by positive urinary dicarboxylic acids?

Answer 31

MCADD/ long chain/ very long chain