DVT -2022

METABOLIC Biochemistry
DR.AMIT JAIN
M.B.B.S. M.D. (Biochemistry)
 VITAMIN TOXICITIES

CUTANEOUS FLUSHING
ACUTE LIVER FAILURE SENSORY NEUROPATHIES PSEUDOTUMOR CEREBRI
MACULOPATHIES BONY EXOSTOSIS/HYPEROSTOSIS
GLUCOSE INTOLERANCE/IR HYPERTRIGLYCERIDEMIA
HYPERURICEMIA TERATOGEN

PYRIDOXINE
NIACIN VITAMIN
/B6
A

-PRO-OXIDANT HEMOLYSIS (BIND

EFFECT(ALSO WITH WITH SH GROUP
VITAMIN
VITAMIN C) OF GLUTATHIONE
VITAMIN E K
-IMPAIRED PLATELET AND DEPLETE IT )
AGGREGATION
 DEFICIENCY OF FAT
SOLUBLE VITAMINS

A E K

OCULAR : NIGHT
BLINDNESS
,XEROPTHALMIA HAEMORRHAGIC
DISEASE OF
SPINOCEREBELLAR ATAXIA NEWBORN.
EXTRAOCUAR: HEMOLYTIC ANAEMIA
PHRYNODERMA aka PROLONGED PT
FOLLICULAR
HYPERKERATOSIS
 THIAMINE RIBOFLAVIN NIACIN

COMMON IN
TRIAD OF
ALCOHOLICS :BERI PELLAGRA
Angular fissure,
BERI (WET :CCF (COMMON WITH STAPLE
AND DRY PRESENT glossitis and circum-
corneal neo- DIET OF *CORN AND
WITH SORGHUM (JOWAR)
NEUROPATHIES ) vasularization.
*CASAL NECKLACE
*LACTIC ACIDOSIS
*THIAMINE
RESPONSIVE
MEGALOBLASTIC TEST :
ANAEMIA (DUE TO GLUTATHIONE
DEFECTIVE REDUCTASE TEST
TRANSKETOLASE)
TEST :
TRANSKETOLASE
TEST
 PYRIDOXINE
PANTOTHENATE BIOTIN

* Peripheral neuropathy
Neonatal Convulsion
ACTIVE FORM : --- Microcytic hypochromic/ x- -Leiner’s disease (severe form of
-COENZYME A OR linked sideroblastic anemia seborrheic dermatitis in infancy)
ACYCL CARRIER also known as erythroderma
PROTEIN * Homocystinuria desquamativum
-DEF : BURNING * Hyper-oxaluria Increased -multiple carboxylase deficiency
FEET SYNDROME -linked to sudden infant death
risk of kidney stones.
OR NUTRITIONAL syndrome
MELALGIA * Xanthurenic aciduria

• High dose of pyridoxine may

be given in carpal tunnel syndrome,
schizophrenia, diabetic nephropathy,
morning sickness of pregnancy
(hyperemesis gravidarum) and
premenstrual syndrome
 FOLATE B12

-Synthesis of -FOLATE TRAP

methionine from -•Methylmalonic aciduria:
homocysteine Defective methylmalonyl
-Synthesis of serine CoA mutase
from glycine DEMENTIA: Vitamin B12 (>
-synthesis of C2 and C8 folate) deficiency is the
purine nucleotides most common cause
-Synthesis of TMP from -Homocystinuria
UMP
Quick formula for numericals based Q
(enzymes /total cholesterol)
• Michaelis menton equation v = Vmax X S
Km + S

• Enzyme efficiency = Kcat

Km
• Friedwalds formula : LDL = Total chol –( HDL+ TG)
5
 MCQ ON GSD
Glycogen storage disorders
MUSCLES AFFECTED ? (HYPOTONIA OR
EXERCISE INTOLERANCE

YES

GLCOGEN HAS ABNORMAL

STRUCTURE

OTHERS V(Mc
YES
RULE OUT GSD 1(VON ARDLES/MUSCLE
GIERKES/G6PASE DEF.) PHOSPHORYLASE,
NO
OR GSD VII (TAURI /PFK-1
6(HER’S/HEPATIC TYPE III (CORI /LIMIT DEXTRIN LIKE DEF:HEMOLYSIS
PHOSPHORYLASE DEF) GLYCOGEN IN PRESENT)
GLYCOGEN/DEBRANCHING ENZ.
LYSOSOMES
DEF.)
TYPE IV (ANDERSAN/ AMYLOPECTIN GSD II; POMPE
LIKE GLYCOGEN /BRANCHING ENZ. DISEASE (DEF OF ACID
DEF.) MALTASE
Urea cycle disorders NEWBORN-
HYPERAMMONEMIA OR
HIGH GLUTAMINE IN BLOOD
(WITH NORMAL LFT)

MCQ: CASE OF UREA CYCLE

DISORDER?

INVESTIGATIONS

CITRULINE LEVELS

HIGH
LOW ORNITHINE
HIGH
CHECK:OROTIC HIGH
ACID LEVELS ? HOMOCITRULLINE
CHECK:ARGINOSUCCINATE LEVEL
LEVELS
LOW:CPS 1 HIGH:OTC
LOW:ASS DEF. HIGH:ASL ORNT1
DEFICIENCY (TYPE 1 DEFICIENCY(TYPE 2
(CITRULLINEMIA DEF.(ARGINOSUCCINATE DEF:HHH
HYPERAMMONEMIA) HYPERAMMONEMIA ACIDURIA SYNDROME
 MCQ ON HYPERLIPOPROTEINEMIA
Hyperlipoproteinemia
INVESTIGATIONS?

HIGH ACCUMULATION OF
HIGH TG(>1000)
CHOLESTEROL(>400) REMNANTS OF
NORMAL CHOL OR
NORMAL TG BOTH VLDL (IDL)
HIGH CHYLOMICRONS
HIGH LDL AND
CHYLOMICRONS
C/F: ACUTE C/F: PREMATURE CVD
PANCREATITIS ,MILKY WITH FAMILY HISTORY
PLASMA? (AD) PALMAR CREASE
XANTHOMA ACHILLES XANTHOMA
TENDON (PATHOGNOMIC) AND
BROAD BETA BAND (β
AND PRE β) ON
TYPE 1 HYPERLIPOPROTEINEMIA, TYPE II OR ELECTROPHORESIS
OR FAMILIAL FAMILIAL
HYPERCHYLOMICROMINAEMIA HYPERCHOLESTER TYPE III
DUE TO LPL DEF OR APO CII DEF OLEMIA DUE TO /DYSBETALIPOPROTEINE
LDL-RECEPTOR MIA DUE TO APO E2
DEF. EXPRESSION
• CONTD. MCQ ON
HYPERLIPOPROTEINEMIA

INVESTIGATION

VERY LOW HDL

NORMAL HDL BUT
<10mg/dl
ABSENT LDL AND VLDL IN
FASTING PLASMA (TG=0-
20,LOW CHOL <50)
CORNEAL OPACIFICATION AT
LIMBUS,ESRD,HEMOLYTIC
C/F: BABY WITH FATTY TANGIERS DISEASE ANAEMIA
STOOL, LOW VIAMIN E CAUSED BY ABCA1 HIGH VLDL(TG),
:NEUROLOGICAL C/F DEFICIENCY
P.S: ACANTHOCYTES (ORANGE TONSILS ) CASE OF FISH EYE DISEASE
CAUSED BY PARTIAL DEF. OF
LCAT
CASE OF ABETALIPOPROTEINEMIA
DUE TO MTTP DEF.
LSD MCQ ON LSD

WHAT IS THE ACCUMULATED

MATERIAL ?

SPHINGOLIPIDS CHOLESTEROL
GLYCOGEN MUCOPOLYSACCHARIDES
ESTERS

GSD II POMPE DISEASE 1.HURLER SYNDROME : WOLMANS

DEF. OF ACID MALTASE DEF IDURONASE (HS+DS DISEASE
ACCUMULATE , HAS REFER DEF OF ACID
CORNEAL CLOUDING LIPASE

2.XLR DIS. , NO CORNEAL

CLOUDING , DEF.
IDURONATE SULFATASE
(HS+DS ACCUMULATE)
 SPHINGOLIPIDOSES

LOOK FOR
ACUMULATED
MATERIAL
GM2
GANGLIOSIDES
SPHINGOMYELIN CERAMIDE
(THE ONLY -PHOSPHATE GLUCO-CEREBROSIDES TRIHEXOSIDE? aka
CONTAINING (GLYCOLIPIDS) Globotriaosylceramide
CHERRY RED SPOT
SPHINGOLIPID)
NO
HEPATOMEGALY
C/F: CHERRY RED SPOT C/F :BONE PAIN /CRISIS
AND C/F: ANGIOKERATOMA ,
AND
HEPATOSPLENOMEGAY CORNEAL VERTICILLATA ,CRF
PANCYTOPENIA(EASY ONION
BRUISING ) SKINNING OF
URINE : PROTEINURIA , LYSOSOMES
SOAP BUBBLE FOAMY GAUCHER CELLS WITH
SEDIMENTS : MULBERRY
HISTIOCYTES CRUMPLED TISSUE
CELLS AND MALTESE
PAPER CYTOPLASM
COSS
CASE OF NIEMANN PICK CASE OF GAUCHERS A CASE OF TAY
DISEASE CAUSED BY DISEASE A CASE OF FABRY DISEASE SACH DISEASE (DEF
SPHINGOMYELINASE (GLUCOCEREBROSIDASE DUE TO DEF OF ALPHA HEXOSAMINIDASE)
DEF DEFICIENCY) GALACTOSIDASE A
 MCQ ON FATTY ACID OXIDATION
DEFECT?

CHILD WITH NON KETOTIC CHILD WITH ACCUMULATION OF

HYPOGLYCEMIA AND RETINITIS VLCFA TISSUES, CATALASE
DICARBOXYLIC ACIDURIA? PIGMENTOSA AND IN CYTOPLASM, LOW
(MASS SPECTROMETRY) ANOSMIA? PLASMALOGEN IN
MEMBRANES

A CASE OF BETA
OXIDATION DEFECT ELEVATED SERUM
COMMONLY CAUSED BY PHYTANIC ACID?
MCAD DEF A CASE OF ZELLWEGER
SYNDROME aka
CEREBROHEPATORENAL
NOTE : OMEGA SYNDROME DUE TO
A CASE OF Adult REFSUM
OXIDATION OCCUR IN ABSENT
DISEASE DUE TO DEFECTIVE
MICROSOMES IN CASE OF PEROXISOMES
(DEF.
DEFECTIVE phytanoyl coA hydroxylase ) (DEFECTIVE BETA
β-OX, AND GENERATE OXIDATION)
DICARBOXYLIC ACIDS
 AMINO ACIDS PRODUCTS AND
DISORDER
HISTIDINE
AND
TRYP TYROSINE GLYCINE ARGININE GLTAMINE

*ABSORB LIGHT
AT 280 nm PRODUCTS: PRODUCTS :
MELANIN,THYROID PRODUCTS HISTAMINE AND
*PRODUCTS= PURINES(NOT
HORMONES AND : NITRIC GABA
NIACIN, PYRIMIDINES),
CATECHOLAMINES OXIDE, (RESPECTIVELY)
SERATONIN AND HEME,CREATINE CREATINE
MELATONIN ,GLUTATHIONE.

DISORDER DISORDERS :
:HARTNUP 1)ALKAPTONURIA(D
DISEASE(DEFECTIVE EF. HGA OXIDASE)
NEUTRAL AMINO
ACID TRANSPORTER 2) TYPE 1
aka PELLAGRA LIKE TYROSINEMIA (FAA
DERMATOSIS HYDROLASE)
1
METABOLIC
Inhibitor
Iodoacetate
INHIBITORS
enzyme
as MCQ
G3PD (glycolysis)
2 Flouride Enolase (glycolysis)
3 Arsenic PDH complex ,alpha KGDH (TCA)
Uncoupler of SLP by PGKinase (glycolysis)
4 Lead ALA dehydratase ,ferrochelatase (heme synthesis)
5 Flouroacetate Aconitase (TCA)
6 Malonate and carboxin Succinate dehydrogenase (TCA /complex II ETC)
7 Ricin 28S rRNA (peptidyl transferase )
8 Alpha amanitin RNA polymerase II
9 ETC complexes I Rotenone
10 II Malonate ,carboxin
11 III Dimercaprol (BAL), Antimycin
12 IV CN, CO,H2S, azide
13 ATP ADP TRANSLOCASE Atractyloside
14 UNCOUPLERS of oxidative phosphorylation Dinitrophenol , (thyroid hormones , Long Chain fatty acid and
UCP-1 are physiological uncouplers)
15 ATP synthase Oligomycin
Obligate Allosteric Activators Enzyme
Acetyl coenzyme A Pyruvate carboxylase (gluconeogenesis)
N-acetyl –glutamate CPS-I (urea cycle )

NON VITAMIN COENZYME Enzyme

BH4 NO SYNTHASE , HYDROXYLASE OF
TRYP,TYR,PHE
SAM SERATONIN  MELATONIN, NE
EPINEPHRINE, CREATINE SYNTH
THIOREDOXIN Ribonucleotide diphosphate reductase
reductase
Heme Cytochromes

ATP produced ATP USED

Glycolysis =7 Gluconeogenesis = 6
Acetyl coenzyme A (TCA ) =10 Urea cycle =4
Beta oxidation ( of 16c saturated fatty
acid palmitic acid ) = 106
ATP SYNTHASE : β SUBUNIT IS CATALYTIC
ALL BIOCHEMISTRY
TEST(LFT,KFT,HORMONES,LIPIDS,DRUGS,AMINO ACIDS :
SERUM SAMPLE (PLAIN VIAL )
PLASMA GLUCOSE : GREY VIAL