Metabolism

Symptoms of hypoglycemia in the brain:

Glycogen is formed and stored in :

GSDs are caused by defects in :

What are the defects of glucose homeostasis?

Which one is the most form of GSD?

Clinical sign of glycogenosis type 1:

Treatment of glycogenosis type 1:

Treatment of GSD:

What happens to glucose and lactate in the Fasting state?

What happens to glucose and lactate in the Fed state?

Differential diagnosis of hypoglycemia:

In hereditary fructose intolerance (HFI): reactive hypoglycemia after fructose due to immediately functional block by:

HFI causes defects in which organs:

Symptoms in chronic HFI of the infant includes:

Lactose is contained in:

Treatment of Fanconi-Bickel Syndrome include:

Clinical signs in Fanconi-Bickel syndrome:

De Vivo syndrome-GLUT 1 deficiency symptoms are:

Treatment in GLUT1 deficiency which one is true?

Take home message in metabolic crisis include:

Genetic counseling includes all of the following EXCEPT:

Approximately what percentage of all pregnancies result in the birth of a child with a significant genetic disease or birth defect that can cause crippling, mental retardation, or early death?

You would appropriately suspect a possible collagen disorder in a patient who has any of the following symptoms except:

You see a previously healthy 3-day-old male infant who is very lethargic, vomiting, and had a seizure. Which of the laboratory tests would be most appropriate to obtain initially to confirm your suspicions?

G6PD deficiency is common in African, Mediterranean, and Asiatic populations in which malaria has been endemic. Multiple different mutations have been found in different populations. This high frequency of G6PD mutations is best explained by :

Which is true of newborn screening tests for genetic diseases? Newborns are typically screened for genetic diseases:

A large percentage of individuals with α1 -antitrypsin deficiency will develop chronic obstructive pulmonary disease (COPD) or emphysema. The severity of this disease will be significantly increased if the patient is:

Why is β -thalassemia major usually evident only after birth?

Severe β -thalassemia may not become clinically apparent until a child is several months old because :

The major abnormal form of hemoglobin that accumulates in a fetus with the severe form of α - thalassemia (hydrops fetalis) is composed of:

For a given autosomal recessive disease, q = 0.01 (where q is the allele frequency of the mutant allele). Approximately what percentage of the population has two copies of the normal allele?

Which of the following observations is the strongest evidence for an important genetic component in the causation of type-1 diabetes mellitus (IDDM)?

Hemophilia A and hemophilia B have nearly identical phenotypes, but they result from mutations in different genes on the X chromosome. This is an example of:

To establish a successful and cost-effective screening program for detecting heterozygous carriers of an autosomal recessive disease, all of the following are essential, EXCEPT:

A child is born with a cleft lip and palate. This birth defect may be associated with the following:

€�One gene, one enzyme” is a phrase describing the concept that:

Asbjörn Følling’s 1st description called Imbecillitas phenylpyrouvica was in

Horst Bickel’s therapeutic success in PKU was in

Bob Guthrie’s screening method was in

Progressive psychomotor retardation due to toxicity of Phe in the central nervous system at blood levels

Classification of phenotypes in PKU are

Mild PKU:

Therapy of PKU

Therapeutic of Homocystinuria

Embryo-fetopathy due to maternal PKU

Hyperaminonemia in NB period

When will Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) occur?

What is the consequence of untreated Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)?

Which organ that involve in Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)?

We can do the diagnosis of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) by the following except:

Which one of these is not the general management in Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)?

Acute therapeutic measure in Propionic Acidemia (PA) / Methylmalonic Aciduria (MMA) are all of the following except:

All of the following are the complication in Propionic Acidemia (PA) / Methylmalonic Aciduria (MMA) except:

Cardiomyopathy:

Which of these following are Branched Chain Amino Acids (BCAAs)?

All of the following are the clinical course in acute neonatal Propionic Acidemia (PA) / Methylmalonic Aciduria (MMA) except

These following are Chronic intermittent manifestation up to adulthood in Propionic Acidemia (PA) / Methylmalonic Aciduria (MMA) except:

These following are Long term therapy in Propionic Acidemia (PA) / Methylmalonic Aciduria (MMA) except:

Which of these following is not the symptoms of Propionic Acidemia (PA) / Methylmalonic Aciduria (MMA)?

Which of the following are the 4 main types of Organic Acidurias?

Organic Acidurias are usually diagnosed in infancy, characterized by urinary excretion of abnormal amounts or types of:

The diagnosis of Organic Acidurias is usually made by detection an abnormal patter of organic acids in an urine sample by:

The Organic Acidurias disorder vary in their prognosis from manageable to fatal and usually affect more than one organ system, especially which one of these system?

The Organic Acidurias generally present with

Chorionic villus sampling for pre-natal diagnosis in Organic Acidurias is done at

A child presents with brawny dermatitis, somnolence hallucinations, and neurologic signs, like hyperesthesia. There is an increase in organic aciduria. He is known to have been fed raw egg-white regularly. This could result from:

A 5-day-old term neonate presents to the ED. Her Parents report a 2 - 3day history of poor feeding and a 1-day history of increasing lethargy. She has increased anion gap metabolic acidosis and a glucose level of 24mg/dl. Urinalysis reveals the presence of large urinary ketones. Which of the following laboratory evaluations, is most likely to lead to an underlying diagnosis?

A 5-months-old, previously healthy infant followed in your clinic has sudden onset of hypotonia and dystonia after an intercurrent illness. She was born with macrocephaly. You have followed her in your clinic since birth without other medical problems of significance. A brain MRI is completed and show s degeneration of the caudate and putamen with frontal atrophy. Which of the following diagnostic tests is most likely to reveal the underlying diagnosis?

Which disease would occur if there was a deficiency enzyme branched-chain alpha-keto acid dehydrogenase?

What group is most likely to develop MSUD (Maple syrup urine disease)?

Which of these following is a risk factor of Maple syrup urine disease I(MSUD)?

What type of fibers are found in connective tissue matrix?

Collagen fiber is found abundantly in the followings except one?

Elastic fiber is found abundantly in the followings except one?

Which one is the collagen disorder type 2?

Which one are involved in Functional Connective tissue complex?

What are the important signs in vascular form of EDS 4?

All of the following are typical facial appearance in EDS 4 except one?

Which organ is the most frequent attacked by EDS 4?

Which one is the mortality cause in Marfan syndrome?

What defects are there in Heritable disorders of connective tissues?

How many types are there in Osteogenesis imperfecta?

What is not type of Osteogenesis imperfecta?

In Alport syndrom , which type of cllagen is involved?

. What clinical signs are in Cutis laxa?

In Ehlers-Danlos Syndrome (EDS) , which collage types are defected?

What type of collagen disorder that causes Epidermolysis bullosa?

What type of collagen disorder that causes Chondrodysplasia?

Which one of the following pathologies is caused by Collagen disorders type 2 , type 9 and type 11 ?

Which disease is caused by Collagen disorders type 7 and type 17?

What is Ehlers-Danlos syndrome?

What is the etiology of EDS?

What is the clinical sign of EDS 7?

What is not diagnostic criteria of Marfan syndrome?

All the following pathologies are bases on heritable disorder of CT except one?

What is Osteogenesis imperfecta?