DIFFERENT METABOLIC DISORDER WITH MNEMONICS
Von-Gierke’s disease (type-1 glycogenosis
characterized by recurrent hypoglycemia attacks with hepatomegaly, and the hypoglycemia does not respond to epinephrine or glucagon.
Pompe’s disease (type-II glycogenosis)
characterized by coarse facies, hepatosplenomegaly, and a tall QRS complex, but it is not a liver glycogenosis.
Mnemonics: ABCDEF
A- Autosomal recessive
B- Biopsy of muscle (presence of vacuole that stain positive for glycogen)
C- Cardiomegaly massive
D- Defects in Acid maltase
E- Enzyme replacement therapy
(lumizyme) available for treatment
ECG (High voltage QRS with short PR intervals)
ECHO (biventricular thickening)
F- Floppy baby with macroglossia, hepatomegaly, and HCM
Muscle cramps with myoglobinuria are a hallmark of Mc Ardle’s disease (type-V glycogenosis).
Galactosemia
in neonates presents with vomiting, distended abdomen, diarrhea, and reducing sugar in the urine, and it is caused by a deficiency in galactose-1-phosphate uridyl transferase, which leads to conjugated hyperbilirubinemia, seizures, and cataract in children
Mnemonics: LACTOSE-FREE
L- Lactose-free diet is given
A- Autosomal inheritance
C- Cataract (oil drop ), vitreous hemorrhage
T- Typically symptoms appear after feeding milk (after a few days or week after birth)
O- ZERO (0) effect of glucagon on hypoglycemia
S- SNHL, Soya-based formula is given
E- E coli sepsis is common
F- Fanconi syndrome (aminoaciduria, phosphaturia, proteinuria)
R- Renal tubular dysfunction
Reducing sugar is detected by the Benedict test
E- Enzyme assay for confirmation of diagnosis (galactose-1-phosphate uridyl transferase, Epimerase and galactokinase)
E- Extra prolongation of neonatal jaundice
Hereditary fructose intolerance
is characterized by hypoglycemia, hepatomegaly, and reducing sugar in the urine after ingestion of fructose (such as sugarcane juice).
Mnemonics: Intolerance FRUCTOse
Intolerance- introduction of fructose or sucrose leads to symptoms in affected individuals.
F- Fructose 1,6 bisphosphate aldolase (ALDOLASE B) deficiency
R- Recessive inheritance (Autosomal)
Restrict all sources of sucrose, fructose, and sorbitol from the diet
U- Urine for reducing substance positive
C- Celiac disease occurs in more than 10% of HFI
T- Table sugar is the culprit
O- Oral fructose challenge test is no longer considered for diagnostic approach.
Multiple carboxylase deficiency is due to biotin deficiency and can cause infantile refusal to feed, vomiting, seizures, ketoacidosis, and skin manifestations.
Organic acidemia can cause intractable seizures, skin rash, and lactic acidosis with hyperammonemia.
Phenylketonuria
is caused by a deficiency in phenylalanine hydroxylase, and the treatment of choice is a low phenylalanine diet (tyrosine becomes an essential amino acid).The FeCl3 test in urine of phenylketonuria gives a green color, and the urine has a mousy odor.
Mnemonics: ABCDEFGHI LM
A- Autosomal recessive
B- Body odor mousy or musty
C- Convulsions, hypertonia, irritability
D- Dental enamel change, Deficiency of PAH(phenylalanine hydroxylase)
E- Elevated levels of phenylacetate and phenylpyruvate
F- Facial peculiarity (Blond hair, blue iris, fair skin)
Ferric chloride test
G- Guthrie test, Growth retardation
I- Intellectual disability due to increased levels of toxic metabolites of phenylalanine and insufficient tyrosine
L- Low phenylalanine diet and adequate tyrosine is given
M- Microcephaly
Maple syrup urine disease is caused by a deficiency in alpha-keto acid decarboxylase, which leads to the blocked metabolism of branched-chain amino acids, and the FeCl3 test in urine gives a blue color.
Gaucher’s disease
is characterized by a deficiency in glucocerebrosidase, which leads to the accumulation of cerebroside (glucocerebroside).
Gaucher disease mnemonics
Tay-Sachs disease is caused by a deficiency in hexosaminidase-A (alpha subunit).
Tay sachs mnemonics
Hunter’s syndrome and Fabry’s disease are lysosomal storage disorders that affect males (X-linked recessive).
Fabry disease mnemonics
Krabbe’s disease can cause a bilateral deep bright thalamic appearance.
Wilson’s disease is characterized by emotional liability and brown discoloration of the Descemet membrane of the cornea, and it is associated with reduced ceruloplasmin, increased serum copper, increased urinary excretion of copper, and increased liver copper.
MNEMONICS: BILSON
13 → 13 chromosomes (looks like B)B- 7B (ATP 76 gene involved)
B- Basal ganglia involved(Dystonia, Dysarthria, tremorBiopsy of Liver gold Std. for diagnosisI → Increased urinary CuImpaired emotion (Emotionally Labile)
L- Liver involvement (Acute subacute /chronic)
Low ceruloplasmin Level
S→ Sensory involvement
O→ Ocular(Sunflower Cataract KF ring-Decement membrane deposit)
N→ Negative Coombs hemolytic anemia
Wolman disease is characterized by adrenal calcification with hepatosplenomegaly, jaundice, abdominal distension, and anemia.Mnemonics: 4A
A – Autosomal recessiveA- Acid lipase deficiencyA- Accumulation of cholesterol Ester and triglycerides in histiocytic foam cellsA- Adrenal gland calcification is pathognomic.
Canavan’s disease is a leucodystrophy characterized by macrocephaly.Mnemonics: CANAMAN DiseaseC- CT and MRI help in diagnosisA- Aspartoacylase enzyme deficiencyN- NAA (N acetyl aspartic acid) deposition in brain especially white matters.A- Ashkenazi jewsM- MacrocephalyA- Alexander Disease is a close differentialN- No specific treatment of the diseaserAAV(recombinant Adeno associated virus) under study trial for treatmentDisease- Diffuse white matters degeneration Aminoaciduria (such as phenylketonuria, homocystinuria, histidinemia), galactosemia, and mucopolysaccharidosis are metabolic disorders associated with mental retardation. Cystinuria is characterized by recurrent urinary stones due to impaired reabsorption of cystine. Pyridoxin-dependent conditions include homocystinuria, oxaluria, cystathionuria, and xanthurenic aciduria. Hartnup disease is characterized by massive aminoaciduria of multiple neutral amino acids without an increase in neutral amino acids in the blood.Mnemonics: HARTNUPH- High protein diet used in the treatmentA- Autosomal recessiveR- Renal loss plus decreased intestinal absorption of tryptophan.T- Tryptophan deficiencyN- Nicotinic acid used in the treatmentU- Urinary analysis of neutral amino acid helps in diagnosisP- Pellagra-like rash CLASSICAL HOMOCYSTINURIAMnemonic- HOMOCYSTINEH- High dose of Vitamin B6 is required for treatment+ of folic acid sometimes.O- Ocular (ectopia lentis)M- Marfan-like features (Arachnodactyly, scoliosis, high arched palate, crowding ofteeth, pes cavus,genu valgum.O- Osteoporosis of the spine is commonCy- Cysthionine $ synthase (CBS) deficiencyS- Seizure may be seenT- Thromboembolic events are commonIn- Intellectual disability progressive commonE- Elevated levels of methionine and homocysteine in body fluids are diagnosticBeta- Betaine lower homocysteine level in body fluid, used in the treatment
ALKAPTONURIA
MNEMONICS:ALCAPTON Uria
A- Arthritis
L- Large joints involvement (shoulder, hips, knee)
C- characteristics -calcification of intervertebral disks andnarrowing of joint space
A- Aortic valvulitis, calcification of heart valve
P- Phenylalanine and tyrosine restricted diet
T- Tyrosine level normal
O- Ochronosis( dark spot on sclera
N- Nitisinone used for treatment
Uria- urine becomes black on longstanding
Hypertyrosinemia
Type1(Hepatorenal tyrosinemia)Mnemonics- RENAL CFR- Renal involvementE- Elevated level of Succinylacetone in urine and bloodN- NeuropathyNitisinone used in treatmentA- Alpha fetoprotein elevatedL- Liver failure/hypoglycaemicC- Cabbage like odorF- FAH(fumeryl acetoacetate Hydroxylase) deficiency
Type 2(oculocutaneous tyrosinemia)Painful corneal lesions and photophobiaKeratosis of palmar surfaceDeficiency of tyrosine transamine Tyrosinemia 3(Neonatal tyrosinemia)Absence of para Hydroxyphenyl pyruvate hydroxylase
Farber
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