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Question 38

Matching

Premises:

Responses:

genotype

disease of the skin surrounding the mouth area

encephalopathy

an intravenous fat emulsion used to prevent or correct deficiency of essential fatty acids and to provide kcal

glycolysis

excessive amounts of fat found in the stool

pyruvate complex disorders

an abnormally elevated concentration of ketone bodies in the body tissues and fluids

cofactors

the mutant or absent gene responsible for a metabolic effect

rhabdomyolysis

the presentation associated with a specific disorder

oligosaccharide

maintenance of normal blood sugar levels

ataxia

dysfunction in the metabolism of pyruvate, the end product of glycolysis, via either the Krebs cycle or gluconeogenesis

tetrahydrobiopterin

displaced lenses in the eye

intralipid

a carbohydrate that through hydrolysis yields a small number of monosaccharides

metabolic decompensation

nonspecific clinical manifestation implying dysfunction of parts of the nervous system that coordinate movement

gluconeogenesis

the anaerobic enzymatic conversion of glucose to lactate or pyruvate, which results in the production of energy in the form of ATP

euglycemia

the process of synthesizing glucose from fatty acids or glycerol

phenotype

vitamins or other nutrients needed for the proper function of certain enzymes

ectopia lentis

disintegration of muscle

ketosis

the methodology used to detect a large number of organic acid compounds on a filter paper blood spot for diagnosing an inborn error of metabolism

steatosis

inability to maintain metabolic balance, leading to derangements in biochemical and clinical parameters

retinopathies

the process of breaking down glycogen to produce glucose

periorificial acrodermatitis

non-inflammatory diseases in the retina of the eye

tandem mass spectroscopy

the cofactor needed to stabilize the enzyme phenylalanine hydroxylase

glycogenolysis

degenerative disease of the brain

Premises:

genotype

encephalopathy

glycolysis

pyruvate complex disorders

cofactors

rhabdomyolysis

oligosaccharide

ataxia

tetrahydrobiopterin

intralipid

metabolic decompensation

gluconeogenesis

euglycemia

phenotype

ectopia lentis

ketosis

steatosis

retinopathies

periorificial acrodermatitis

tandem mass spectroscopy

glycogenolysis

Responses:

disease of the skin surrounding the mouth area

an intravenous fat emulsion used to prevent or correct deficiency of essential fatty acids and to provide kcal

excessive amounts of fat found in the stool

an abnormally elevated concentration of ketone bodies in the body tissues and fluids

the mutant or absent gene responsible for a metabolic effect

the presentation associated with a specific disorder

maintenance of normal blood sugar levels

dysfunction in the metabolism of pyruvate, the end product of glycolysis, via either the Krebs cycle or gluconeogenesis

displaced lenses in the eye

a carbohydrate that through hydrolysis yields a small number of monosaccharides

nonspecific clinical manifestation implying dysfunction of parts of the nervous system that coordinate movement

the anaerobic enzymatic conversion of glucose to lactate or pyruvate, which results in the production of energy in the form of ATP

the process of synthesizing glucose from fatty acids or glycerol

vitamins or other nutrients needed for the proper function of certain enzymes

disintegration of muscle

the methodology used to detect a large number of organic acid compounds on a filter paper blood spot for diagnosing an inborn error of metabolism

inability to maintain metabolic balance, leading to derangements in biochemical and clinical parameters

the process of breaking down glycogen to produce glucose

non-inflammatory diseases in the retina of the eye

the cofactor needed to stabilize the enzyme phenylalanine hydroxylase

degenerative disease of the brain

Correct Answer:

Premises:

Responses:

genotype

encephalopathy

glycolysis

pyruvate complex disorders

cofactors

rhabdomyolysis

oligosaccharide

ataxia

tetrahydrobiopterin

intralipid

metabolic decompensation

gluconeogenesis

euglycemia

phenotype

ectopia lentis

ketosis

steatosis

retinopathies

periorificial acrodermatitis

tandem mass spectroscopy

glycogenolysis