Metabolic Medicine Flashcards
Mutation of HPRT1 gene
Lesch-Nyhan syndrome
What is Lesch-Nyhan syndrome
Characterised by the overproduction and accumulation of uric acid
Characterised by self-injury (i.e. head banging and self biting)?
Lesch-Nyhan syndrome
Inheritance of Lesch-Nyhan syndrome?
X-linked recessive
Associated with oil drop cataracts
Galactosaemia
Due to a mutation in the galactose-1-phosphate uridyltransferase gene on chromosome 9
Galactosaemia
Associated with e-coli sepsis
Galactosaemia
What is Hartnup disease?
Metabolic condition affecting the transport of amino acids in the kidneys and small intestine
First presentation is with photosensitivity and symptoms of pellagra (diarrhoea and dermatitis)?
Hartnup disease
What is Alkaptonuria?
Characterised by homogentistic acid oxidase deficiency - leads to an accumulation of homogentistic acid (passed in the urine however if urine left standing it rapidly oxidises forming a black pigment)
Symptoms of Alkaptonuria?
Homogentistic deposition in the cartilage leading to grey discolouration in young adulthood
Deposition in cardiac tissue - aortic stenosis
Characterised by a deficiency of aldolase B?
Hereditary fructose deficiency
Name the types of organic acidaemia?
Maple syrup urine disease
Propionic academia
Methylmalonic acidaemia
Isovaleric acidaemia
Investigation of choice for organic acidaemia?
Raised blood and urine amino acids (leucine, isoleucine and valine)
Exacerbated by infection and periods of high protein intake?
Organic acidaemia
Treatment is with a low protein diet?
Organic acidaemia
What are the causes of a increased anion gap acidosis?
Methanol
Uraemia
DKA/ AKA
Paraldehyde/ phenformin
Iron
Lactic acidosis
Ethylene glycol
Salicylates
Mneumonic MUDPILES
What causes a normal anion gap acidosis? i.e hyperchloraemic metabolic acidosis
Gastrointestinal bicarbonate loss: diarrhoea, ureterosigmoidostomy, fistula
Renal tubular acidosis
Drugs: e.g. acetazolamide
Ammonium chloride injection
Addison’s disease
What is the treatment of choice for acute attacks in MCADD?
10% dextrose
Usually presents as an inability to generate energy during periods of high demand?
MCADD
May present with hypoglycaemia, hepatic encephalopathy or sudden infant death syndrome
MCADD
Site of ribosome production
Nucleolus
Site of translation and folding of new proteins?
Rough endoplasmic reticulum
Site of steroid and lipid synthesis?
Smooth endoplasmic reticulum
Modifies, sorts and packages molecules that are destined for cell secretion?
Golgi apparatus
Site of DNA maintenance and RNA transcription?
Nucleus
Site of breakdown of large molecules such as proteins and pilysaccharides?
Lysosomes
Site of translation of RNA into proteins?
Ribosomes
Involved in degradation of protein molecules that have been tagged with ubiquitin
Proteasome
Investigations for peroxisomal disorders?
Elevated very long chain fatty acids
Elevated bile acid intermediates
Elevated phytanic acid and pipecolic acid
Signs of rickets?
In toddlers - genu varum (bow legs), in older children - genu valgum (knock knees)
‘Rickety rosary’ - swelling at the costochondral junction
Kyphoscoliosis
Craniotabes - soft skull bones in early life
Harrison’s sulcus
Normal blood gas in pregnancy?
Compensated respiratory alkalosis
Causes of hypercalcaemia?
C alcium supplementation
H yperparathyroidism
I atrogentic (Drugs: Thiazides)
M ilk Alkali syndrome
P aget disease of the bone
A cromegaly and Addison’s Disease
N eoplasia
Z olinger-Ellison Syndrome (MEN Type I)
E xcessive Vitamin D
E xcessive Vitamin A
S arcoidosis
Cherry red spot with neurological deterioration and no evidence of hepatosplenomegaly?
Tay-Sachs disease
Cherry red spot with neurological deterioration and hepatosplenomegaly?
Niemann Pick syndrome
Which form of Niemann Pick does NOT present in children>
Type E
Causes of a cherry red spot?
Central retinal artery occlusion
Niemann-Pick
Tay-Sachs
Sandhoff disease
Multiple Sulfatase Deficiency
Mucolipidosis Type 1 and 2
Phenylalanine hydroxylase deficiency
PKU
Cystathionine beta synthase deficiency
Homocysteinuria
Beta-N-acetylhexosaminidase A deficiency
Tay-Sachs disease
Glucosylceramidase deficiency
Gaucher’s disease
Sphingomyelinase deficiency
Neimann-Pick disease
Musty smell?
PKU
What are the causes of a normal anion gap?
Hyperventilation
Acetazolamide
Renal tubular acidosis
Diarrhoea
Ureteral diversion
Pancreatic fistula
Which 6 metabolic conditions are tested for on Guthrie heel prick?
Phenylketonuria (PKU)
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
Maple syrup urine disease (MSUD)
Isovaleric acidaemia (IVA)
Glutaric aciduria type 1 (GA1)
Homocystinuria (pyridoxine unresponsive) (HCU)
Where is calcitonin released from?
C cells of the thyroid
