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ABANCE, Sherin V.

BSN II B

DISORDER
CYSTINOSIS

CYSTINURIA

FABRY
DISEASE

February 22, 2016

CAUSE

SIGNS AND
SYMPTOMS

TREATMENT

lysosomal cystine

rickets, dehydration,

supportive therapy,

transporter defect

stunted growth, kidney

cysteamine, kidney

disease, corneal deposits

transplantation

kidney stones

high fluid intake, urine

cystine and dibasic


amino acid

alkalinization, oral

transporter defect

sulfhydryl agents

deficiency of alpha-

kidney failure, pain, skin

pain management,

galactosidase A

lesions, cloudy corneas and

dialysis, kidney

lenses, heart disease

transplantation, enzyme
replacement therapy
(experimental)

GALACTOSEM

deficiency of

jaundice, liver dysfunction,

exclusion of galactose

IA

galactose-1-

lethargy, weight loss,

from the diet

phosphate

kidney disease,

uridyltransferase

susceptibility to infection,
cataracts

GAUCHER
DISEASE

defect of beta-

enlarged liver and spleen,

enzyme replacement

glucocerebrosidase

bone disease, lipid-laden

therapy, splenectomy,

cells in bone marrow

orthopedic procedures

neutral amino acid

ataxia, rash, mental and

supplementation of

transport defect

psychiatric abnormalities

nicotinamide, high-

(type I)
HARTNUP
DISEASE

protein diet

HOMOCYSTIN
URIA

defect in

pronounced flush of the

vitamin B6, folic acid,

cystathionine beta-

cheeks, thin, tall frame,

vitamin B12, betaine,

synthase

lens dislocation, vascular

low-dose aspirin, dietary

disease, osteoporosis,

restriction of protein

possible mental

and methionine

retardation, psychiatric

ABANCE, Sherin V.
BSN II B

February 22, 2016


abnormalities

HUNTER

deficiency of

coarse features, enlarged

supportive therapy,

SYNDROME

iduronate 2-

liver and spleen, growth

enzyme replacement

sulfatase

deficiency, probable mental

therapy (experimental)

deficiency, heart disease,


bone abnormalities

HURLER
SYNDROME

deficiency of alpha-

mental retardation, cloudy

supportive therapy,

L-iduronidase

corneas, enlarged liver and

enzyme replacement

spleen, coarse features,

therapy

cardiac failure, stiff joints,


bone abnormalities

LESCH-

deficiency of

neurological impairment,

high fluid intake, urine

NYHAN

hypoxanthine-

mental retardation, gout,

alkalinization,

guanine

kidney stones, kidney

allopurinol, extraction of

phosphoribosyltran

failure, self-mutilation

teeth, protective

SYNDROME

sferase

MAPLE

physical devices

deficiency of

neurological deterioration,

protein restriction,

SYRUP URINE

branched-chain

maple syrup smell to urine,

formulas deficient in

DISEASE

alpha-keto acid

muscular tension, mental

branched-chain amino

dehydrogenase

retardation

acids, thiamin for milder

complex

MAROTEAUXLAMY

forms

deficiency of

coarse features, stiff joints,

supportive therapy,

arylsulfatase B

cloudy corneas, enlarged

enzyme replacement

liver and spleen, skeletal

therapy (experimental)

SYNDROME

involvement

MORQUIO
SYNDROME

deficiency of N-

coarse features, cloudy

acetylgalactosamin

corneas, spinal curvature,

e-6-sulfatase or

knock-knees and other

beta-galactosidase

severe skeletal
abnormalities, severe short
stature

supportive therapy

ABANCE, Sherin V.
BSN II B

NIEMANNPICK

February 22, 2016


deficiency of

neurological deterioration,

sphingomyelinase

cherry-red spot on the

DISEASE

retina of the eye, enlarged

(type A)

liver and spleen, lipid-laden

supportive therapy

cells in bone marrow,


pulmonary disease, liver
dysfunction

PHENYLKETO

low activity of

developmental delay, light

diet low in

NURIA

phenylalanine

features, behaviour

phenylalanine and

hydroxlase

disturbances, mental

protein, including

retardation if untreated

special formula

lack of alpha-1,4-

diminished muscle tone,

supportive therapy,

glucosidase

heart failure, enlarged

enzyme replacement

tongue

therapy (experimental)

heme biosynthesis

abdominal pain, nausea,

administration of heme,

defects

vomiting, dark or red urine,

high-carbohydrate diet,

rashes, neurological

avoidance of

symptoms

exacerbating factors

mild deficiency of

cloudy corneas, joint

supportive therapy,

alpha-L-iduronidase

limitation

enzyme replacement

POMPE
DISEASE

PORPHYRIA

SCHEIE
SYNDROME

therapy

TAY-SACHS-

deficiency of beta-

neurological deterioration,

DISEASE

hexosaminidase A

startle reaction to sound,

supportive therapy

seizures, cherry-red spot


on the retina of the eye

TYROSINEMI
A
(hepatorenal

defect in

liver disease, liver cancer,

NTBC, a dietary

fumarylacetoacetat

peripheral nerve disease,

restriction of

e hydrolase

kidney defects

phenylalanine and

ABANCE, Sherin V.
BSN II B

February 22, 2016

tyrosine, liver
transplantation if
necessary

VON GIERKE
DISEASE

deficiency of

hypoglycemia, enlarged

frequent feedings of

glucose-6-

liver, dwarfism, gout, short

glucose, liver

phosphatase

stature, high blood lipids

transplantation if
necessary