WorksheetsISMART METABOLIC DISEASES QUIZ
Total questions: 20
Worksheet time: 20mins
Which mucopolysaccharidoses (MPS) is X-linked recessive?
Morquio syndrome
Maroteaux-Lamy syndrome
Sanfilippo syndrome
Hunter syndrome
What is the end product of the catabolic pathway of purines in humans ?
Citric acid
ATP
Uric acid
Cytidine
Patient manifests with intellectual disability, dystonic movement disorder, choreoathetosis, self biting, dysarthric speech. What is the enzyme deficiency in his condition?
Hypoxanthine- Guanine Phosphoribosyltransferease deficiency (HPRT)
Adenine Phosphoribosyltransferease deficiency (APRT)
Phosphoribosylpyrophosphate deficiency (PRPP)
Adenylosuccinase Lyase deficiency
At what age does self injurious behavior (SIB) in Lesch Nyhan Disease usually manifest?
4 months
Birth
8 months
1 year
Which Phosphoribosylpyrophosphate Synthetase 1 (PRPS-1) deficiency manifest with progressive postlingual hearing loss?
Arts syndrome
Charcot Marie Tooth Disease
X-linked deafness 2 (DFN2)
Sly syndrome
What are the characteristics of Hutchinson- Gilford Progeria Syndrome?
Autosomal recessive
Intellect is normal for age due to downregulation of progerin expression.
Mutation of RECQL4 gene
They can achieve Tanner Stage III
Which of the human porphyrias manifest with phototoxic pain and swelling with childhood onset?
Acute intermittent porphyria
Erythropoietic protoporphyria
Porphyria cutanea tarda
Variegate porphyria
Treatment of choice for most acute attacks of porphyria ?
IV Glucose
Albumin
IVIg
Hemin
Hypoglycemia in normal newborn is defined as blood glucose level of?
<50 mg/dl
< 60 mg/dl
< 55 mg/dl ANS
< 65 mg/dl
Hyperinsulinism is defined as ?
glucose of <50mg/dl and plasma insulin of >5 u/ml
glucose < 60 mg/dl and plasma insulin of >15 u/ml
glucose < 55 mg/dl and plasma insulin of >5 u/ml
glucose <65 mg/dl and plasma insulin of 15 u/ml
In Beckwith- Wiedenmann syndrome, 50% have hypoglycemia associated with hyperinsulinemia. The following statement best describe this syndrome.
Mutation in chromosome 11p15.5
Presence of gastroschisis
Management is by pancreatic resection
Presence of diffuse islet cell hypoplasia in infants with hypoglycemia.
An 11-month-old boy presented with repeated convulsions, poor eye contact, exaggerated startle response to noise, and large head. Ophthalmic exam revealed cherry-red spot. Of the following, the MOST likely diagnosis is
Tyrosinemia
Fabry disease
Gaucher disease
Tay-Sachs disease
A 4-month old girl presented with seizure, hepatomegaly and doll-like face. Laboratory results revealed hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. The most likely diagnosis
Andersen disease
Hers disease
Von Gierke disease
Pompe disease
The MOST appropriate method to confirm the diagnosis of tyrosinemia type 1 is by elevated level of
α-fetoprotein
plasma tyrosine
serum methionine
serum succinylacetone
Irreversible complication of untreated galactosemia is
Pseudotumor cerebri
Intellectual disability
Sepsis
Myocardial damage
The MOST appropriate treatment of homocystinuria is
Betaine
Folic acid
Vitamin C
Pyridoxine
The main organ damaged by Phenylketonuria is:
Brain
Liver
Kidney
Heart
In Maple Syrup Urine Disease, decarboxylation of these essential amino acids is accomplished by a complex enzyme system using thiamine Pyrophosphate as co-enzyme:
Tyrosine, isoleucine, tryptophan
Phenylalanine, Valine, Threonine
Tryptophan, Isoleucine, Methionine
Leucine, Isoleucine, Valine
Collodion skin is a manifestation of Lysosomal Storage Disorder in the newborn period and it is associated with:
Niemann-Pick disease
Krabbe Disease
Gaucher’s Disease
Congenital Sialidosis
Pediatricians as well as other health workers should familiarized themselves with early signs and symptoms of genetic metabolic disorders. Lethargy, poor feeding, seizures and coma may be seen in infants with:
Hypercalcemia
Hyperammonemia
Hyperglycemia
Hyperthermia
