Biomaterial Database

Anesthetic management of a patient with hereditary fructose intolerance and phenylketonuria. 1993

V Celiker, and O Dural, and K Erdem

Department of Anesthesiology and Reanimation, Hacettepe University Faculty of Medicine, Ankara, Turkey.

This is a report of a five-year-old girl with phenylketonuria (PKU) and hereditary fructose intolerance (HFI) who underwent elective strabismus surgery. PKU and HFI are two inborn errors of metabolism which have an autosomal recessive mode of inheritance. This case report describes the anesthetic features of a patient with PKU and HFI, each defect requiring specific anesthetic management.

UI	MeSH Term	Description	Entries
D009609	Nitrous Oxide	Nitrogen oxide (N2O). A colorless, odorless gas that is used as an anesthetic and analgesic. High concentrations cause a narcotic effect and may replace oxygen, causing death by asphyxia. It is also used as a food aerosol in the preparation of whipping cream.	Laughing Gas,Nitrogen Protoxide,Gas, Laughing,Oxide, Nitrous
D010661	Phenylketonurias	A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).	Biopterin Deficiency,Dihydropteridine Reductase Deficiency Disease,Hyperphenylalaninemia, Non-Phenylketonuric,Phenylalanine Hydroxylase Deficiency Disease,BH4 Deficiency,DHPR Deficiency,Deficiency Disease, Dihydropteridine Reductase,Deficiency Disease, Phenylalanine Hydroxylase,Deficiency Disease, Phenylalanine Hydroxylase, Severe,Dihydropteridine Reductase Deficiency,Folling Disease,Folling's Disease,HPABH4C,Hyperphenylalaninaemia,Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism,Hyperphenylalaninemia, BH4-Deficient, C,Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency,Non-Phenylketonuric Hyperphenylalaninemia,Oligophrenia Phenylpyruvica,PAH Deficiency,PKU, Atypical,Phenylalanine Hydroxylase Deficiency,Phenylalanine Hydroxylase Deficiency Disease, Severe,Phenylketonuria,Phenylketonuria I,Phenylketonuria II,Phenylketonuria Type 2,Phenylketonuria, Atypical,Phenylketonuria, Classical,QDPR Deficiency,Quinoid Dihydropteridine Reductase Deficiency,Tetrahydrobiopterin Deficiency,Atypical PKU,Atypical Phenylketonuria,Biopterin Deficiencies,Classical Phenylketonuria,Deficiency, BH4,Deficiency, Biopterin,Deficiency, DHPR,Deficiency, Dihydropteridine Reductase,Deficiency, PAH,Deficiency, Phenylalanine Hydroxylase,Deficiency, QDPR,Deficiency, Tetrahydrobiopterin,Disease, Folling,Disease, Folling's,Hyperphenylalaninemia, Non Phenylketonuric,Non Phenylketonuric Hyperphenylalaninemia,Non-Phenylketonuric Hyperphenylalaninemias
D011184	Postoperative Period	The period following a surgical operation.	Period, Postoperative,Periods, Postoperative,Postoperative Periods
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005260	Female		Females
D005633	Fructose Intolerance	An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.	ALDOB Deficiency,Aldolase B Deficiency,Fructose Aldolase B Deficiency,Fructose Intolerance, Hereditary,Fructose-1,6-Biphosphate Aldolase Deficiency,Fructose-1,6-Bisphosphate Aldolase B Deficiency,Fructose-1-Phosphate Aldolase Deficiency,Fructosemia,Hereditary Fructose Intolerance,ALDOB Deficiencies,Aldolase B Deficiencies,Aldolase Deficiencies, Fructose-1,6-Biphosphate,Aldolase Deficiencies, Fructose-1-Phosphate,Aldolase Deficiency, Fructose-1,6-Biphosphate,Aldolase Deficiency, Fructose-1-Phosphate,Deficiencies, ALDOB,Deficiencies, Aldolase B,Deficiencies, Fructose-1,6-Biphosphate Aldolase,Deficiencies, Fructose-1-Phosphate Aldolase,Deficiency, ALDOB,Deficiency, Aldolase B,Deficiency, Fructose-1,6-Biphosphate Aldolase,Deficiency, Fructose-1-Phosphate Aldolase,Fructose 1 Phosphate Aldolase Deficiency,Fructose 1,6 Biphosphate Aldolase Deficiency,Fructose 1,6 Bisphosphate Aldolase B Deficiency,Fructose Intolerances,Fructose Intolerances, Hereditary,Fructose-1,6-Biphosphate Aldolase Deficiencies,Fructose-1-Phosphate Aldolase Deficiencies,Fructosemias,Hereditary Fructose Intolerances,Intolerance, Fructose,Intolerances, Fructose
D006221	Halothane	A nonflammable, halogenated, hydrocarbon anesthetic that provides relatively rapid induction with little or no excitement. Analgesia may not be adequate. NITROUS OXIDE is often given concomitantly. Because halothane may not produce sufficient muscle relaxation, supplemental neuromuscular blocking agents may be required. (From AMA Drug Evaluations Annual, 1994, p178)	1,1,1-Trifluoro-2-Chloro-2-Bromoethane,Fluothane,Ftorotan,Narcotan
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000768	Anesthesia, General	Procedure in which patients are induced into an unconscious state through use of various medications so that they do not feel pain during surgery.	Anesthesias, General,General Anesthesia,General Anesthesias
D013285	Strabismus	Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)	Concomitant Strabismus,Dissociated Horizontal Deviation,Dissociated Vertical Deviation,Heterophoria,Heterotropias,Hypertropia,Non-Concomitant Strabismus,Nonconcomitant Strabismus,Phorias,Squint,Strabismus, Comitant,Strabismus, Noncomitant,Convergent Comitant Strabismus,Mechanical Strabismus,Comitant Strabismus,Comitant Strabismus, Convergent,Deviation, Dissociated Horizontal,Dissociated Horizontal Deviations,Dissociated Vertical Deviations,Heterophorias,Heterotropia,Horizontal Deviation, Dissociated,Hypertropias,Non Concomitant Strabismus,Noncomitant Strabismus,Phoria,Strabismus, Concomitant,Strabismus, Convergent Comitant,Strabismus, Mechanical,Strabismus, Non-Concomitant,Strabismus, Nonconcomitant