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What is NBS? 6. MSUD- death
Newborn screening- is a simple procedure to find out if
your baby has a congenital metabolic disorder the may 1. CONGENITAL HYPOTHYROIDISM
lead to mental retardation and even death if left -caused by thyroid defect which results in low levels of
untreated. Thyroxine (T4) in the blood.
-Ideally done on the 48-72 hours of life >if not detected early:(+) mental retardation,poor
-It may also done 24 hours growth
1. Congenital Hypothyroidism (CH) Clinical manifestations:
- results from lack or absence of thyroid home which is Feeding problems,lethargic
essential for the physical and mental dev’t of a child. √delayed stooling,constipation
- suffer growth and development √enlarged protruding tongue, hoarse cry
2. Congenital Adrenal Hyperplasia (CAH) √protruding abdomen w/ umbilical hernia
- endocrine disorder that causes severe salt loss, √cold mottled skin,sluggish reflexes
Dehydaration, and high levels of male hormones in both √patent posterior fontanel
boys and girls. incidence:1 : 3600-5000 nb
CAH may die within 7-14 days Common in males;(+) down syndrome
3.Galactosemia (GAL) - Dx:nbs, T3,T4 determination; free T4; Resin uptake;TBIg
-is a condition in which babies are unable to process Txt: lifelong thyroid hormone replacement therapy asap
galactose , the sugar present in milk. Accumulation of DOC: synthetic levothyroxine sodium
excessive galactose in the body can cause many (synthroid,levothroid)
problems, including liver damage, brain damage and
cataracts. 2. CAH- rare but dangerous inborn metabolic disorder.
4. G6PD deficiency- Causes: severe salt loss, high levels of male sex
-is a condition where the body lacks the enzyme called hormone in males and females.
G6PD. - if not detected and treated early, babies may die
-hemolytic anemia- exposure to oxidative substance within 9-13 days.
found in drugs, foods and chemicals. Pathophysiology: increased production of acth- (+)
5. Phenylketonuria – hyperplasia of adrenal gland.
-body cannot use properly protein called phenylalanine. Causes: hypo or hyperaldosteronism
Excessive accumulation of phenylalanine in the blood -most common biochemical defect:partial/complete
causes brain damage. 21-hydroxylase def.
6. Maple Syrup Urine Disease (MSUD) – Clinical manifestations:
-is agenetic metabolic disorder resulting from the √female musculinization
defective activity of the enzyme branched chain alpha √male precocious genital dev't
-keto-acid dehydrogenase complex.toxic to brain. √if untreated:early sexual maturation
√ female: no breast dev't, amenorrheic, infertile
Disorder and its effects: √male: testes temain small
1. Ch- severe mental retardation Dx:dec. Aldosterone in the blood and cortisol in blood
2. CAH- death √elevated urinary 17 -ketosterods
3. GAL - death or cataracts √elevated DHEA sulfate
4. PKU- severe mental retardation √x-ray for bone age
5. G6PD- severe anemia, kernicterus √abnormal salt levels in blood and urine
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√genetic testing
Clinical dx:initially based on congenital anomalies that 4. Phenylketonuria (PKU)
lead to difficulty in assigning sex to nb and on signs of -genetic d.o char. By an in ability of the body to utilize
adrenal insufficiency or hpn. the essential amino acid "phenylalanine".
√loss of Na,Cl,increaseK -lack of enzyme phenylalanine hydroxylase that
√Karyotyping:for ambigous genetalia breaksdown phenylalanine.
√UZ Causes: Inherited
Therapeutics: Clinical manifestations:
Goal: to return hormone levels to normal - v0miting, irritability, eczema like rash, mousy odor
√daily adm. Of cortisol:dexamethasone,hydrocortisone urine
√add'l doses required during severe illness or surgery - subtle signs: increase muscle tone
√medications:for life -mental retardation,seizures
Prognosis:ussually assoc.with good health - untreated children: microcephaly, prominent cheek
√shorth stature even w/ txt and upper jaw bones, widely spaced teeth, poor dev’t of
√females:smaller opening of vagina,lower fertility. both enamel, decreased bony growth
√males: normal fertility Treatment: maintain blood level of phenylalanine bet,
Complications: 2-10 mg/dl
√adrenal crisis 5. G6PD deficiency
√abnormal female external genitalia - important RBC enzyme necessary for glucose
√early dev't of male sexual characteristics metabolism and preservation of RBC
√short adult stature -causes:hemolytic anemia
√tumors of testes in adult men S/sx:breathlessness, dizziness
√high bp,low blood sugar √pallor (anemia),dark red urine,jaundice
3.Galactosemia (GAL) Complications:jaundice,hemolytic anemia,death
-rare autosomal recessive disorder Etiology:genetic (male-x-linked pattern of inheritance)
- inborn e rror of carbohydrate metabolism Females:carrier
-absent hepatic enzyme galactose 1 -P04 uridine √drugs and food (fave beans)
transferace (UDP- Galactose transferace) √causes acute renal failure
Pathophysiology: Dx:cbc,reticulocyte count, liver enzyme test,combs test
-deficient transferace-accumulation of galactose 1-PO4 Txt:avoidance of food,drugs that cause hemolysis
-hepatic dysfunction-(+) cirrhosis- jaundice in infant by √vaccination,blood transfusion,splenectomy.
2nd wk of life
-(+) splenomegly 2° to portal HPN
-(+) cataract formation by 1-2 mos. Of age
S/sx:
√cirrhosis of the liver, lethargy, hypotonia, splenomegaly
√cataract,mental retardation, vomitingl, diarrhea,
malnutrition.
Prevention:
√eliminate milk, lactose containing food includng breast
milk
