Biochem Flashcards
Enzymes containing selenocysteine
Thioredoxin reductase
Glycine reductase
Glutathione peroxidase
Deiodinase
Selenoprotein p
Most common mutation of cystic fibrosis(AR)
Phenylalanine at 508
Dye used in real time PCR for SARS-COV-2
SYBR green dye
HCC
Rancid butter odour
Boiled cabbage smell in urine
Tyrosinemia I
Fumarylacetoacetate hydrolase deficiency
Swimming pool odour
Tyrosinemia III
Para hydroxy phenyl pyruvic acid hydrolase deficiency
Hawkinuria
Neonatal tyrosinemia
Guthric test
Bacillus subtilis grows on phenylalanine
Fasting hyperglycemia
Lactic acidosis
Hyperuricemia
Hyperlipidemia
Ketosis
Von gierkes disease
Glucose 6 phospatase deficiency
Muscle weakness
Heart failure
Death by 2 years
Pompe’s disease
Lysosomal acid maltase / α1,4→α1,6 glucan transferase deficiency
Fasting hypoglycemia
Biopsy - Glycogen with short branches
Cori’s disease/ Limit Dextrinosis
Debranching enzyme deficiency
Severe fasting hypoglycemia
Biopsy - linear glycogen
Death by 5 years
Anderson’s disease / Amylopectinosis
Branching enzyme deficiency
Extreme muscle weakness
Exercise intolerance
McArdle’s disease
Muscle glycogen phosphorylase deficiency
Mild fasting hypoglycemia
Well tolerated
Her’s disease
Hepatic Glycogen phosphorylase deficiency
Muscle weakness
Hemolysis
Tauri’s disease
Muscle and RBC: PFK 1 deficiency
6m/o - on weaning
Vomiting
Diarrhoea
Acute liver failure
Hereditary fructose intolerance
Aldolase B deficiency
Neonate(<1month)
Vomiting
Diarrhoea
Acute liver failure
B/L congenital cataract
Classical galactosemia
Gal 1 P Uridyltransferase deficiency
Muscle weakness
Excercise intolerance
Cola coloured urine
Carnitine deficiency - t/t carnitine
CPT 1 deficiency - not treatable
❌ β oxidation in muscles
Cola coloured urine - myoglobinuria
Foreign fruit ingestion
Fasting hypoglycemia
Vomiting
Convulsions
Jamaican vomiting sickness
Ackee fruit - hypoglycin → (-)Med Chain Acyl CoA dehydrogenase deficiency
❌ β oxidation in liver
Foam like histiocyte
Cherry red spot
Organimegaly
Neimann pick disease (AR)
Sphingomyelinase deficiency
Urine sphingomyelin
Angiokeratoma
Hypohidrosis
Corneal clouding
FABRY disease (X linked)
α Galactosidase deficiency
Urine - Trihexose ceramide
Mental retardation
Myotonia
Wide epicanthal folds
Low set ears
Hurlers disease - Mucopolysaccharidoses I- α-L-Iduronidase deficiency - corneal clouding(+)
Hunters disease - Mucopolysaccharidoses II- Iduronate sulphate deficiency - corneal clouding(-)
Cerebellar ataxia
Retinitis pigmentosa
Peripheral neuropathy
↑CSF pressure
Refsum disease - mild peroxisomal biogenesis disorder - phytanolyl CoA α hydroxylase deficiency
T/t No dairy, green leafy vegetables
Other PBDs
Moderate - Adrenal leucodystrophy
Severe - Zellweger syndrome - peroxisomal agenesis - Accumulation of VLCFA - cerebrohepatorenal syndrome
ω oxidation defect
Dicarboxylic aciduria
