Metabolism newborn

Question 1

Hypocalcemia risks factors and norms

Answer 1

total Ca <7mg/dl

EARLY HYPOCALCEMIA -Infant of diabetes mother -Premature or sick infants

LATE HYPOCALCEMIA -high phosphate milk -Prolonged poor enteral intake(also vitamin D)

Presents with :

• No symptoms and can resolve
• Acute: apnea, irritable, tremors, longQt, seizures, tetany (Chvostek sign- facial muscle spasm when 7th nerve tapped and Trousseau sign- carpopedal spasm by inflation pressure cuff)
• Chronic: rickets, bone demineralization, rib and bone fractures

Question 2

TT hypocalcemia newborn

Answer 2

-nothing -10% calcium gluconate p.o., i.v. if symptomatic then inufusion over 24hr

Question 3

Hypomagnesemia: levels, risk factors and TT

Answer 3

Mg<1,52mEq/l Hypocalcemia and Low Mg intake tt: Magnesium sulfate im (EKG monitoring- because affects Na,K in cells)

Question 4

Inborn errors of metabolism suspected when? (before birth)

Answer 4

• Progressive encephalopathy (most common) -poor feeding,vomiting, encephalopathy, acidosis, coma and death
• a positive family history or previous unexplained deaths in the family
• Hypoglycaemia Acid/base balance disturbances Lactic acidaemia Progressive encephalopathy Liver disease Developmental regression Seizures in first days of life Unusual dysmorphic features Family history of metabolic disorders. Progressive neurological disorders Unexplained multi organ or single organ unusual illness with history of non or/and consanguinity
• introduction of new food or period of illness or stress preceds the symptoms

Question 5

Inborn errors of metabolism- deficiency- toxic compounds

Answer 5

Fatty acid disorders:

-MCAD: deficiency of acyl-coA dehydrogease- no fat for energy, so use of glucose only, hypoglycemia and elevated liver enzymes common manifestation. TT with avoidance of fasting, and extra calories during periods of stress.

Amino acid disorders:

-PKU: deficiency of tyrosine and therefore accumulation of phenylalanine (PHA–> tyrosine–>…)

• AUT REC
• neurological IQ and psychological consequences if untreated
• TT: restricted in the diet

-homoscysteinurea:

• AUT REC, homocysteine accumulates, slowly evolving clinical syndrome: dislocated lens, pectus excavatum, scholiosis, arachnodactyly, mental retardation, thrombi major threat
• TT: remethlyation homocysteine and diet can control levels well

Carbohydrate disorders:

-Glactossemia: deficiency of galastose-1-p-uridyltrabsferase- accumulation of galactose, leads to hepatic dysfunction, neuro injury, impaired immune response,..

• AUT REC
• when fed with lactose (galactose), appears with liver failure,renal tubular dysfunction (Acidosis, glycosuria), cataracts, infection
• TT removal of lactose diet

Urea cycle abnormalities:

-accumulation of ammonia- toxic encepalopathy of CNS

Mitochondrial: very severe- no ATP depending on organs affected, GI, CMP, CNS. TT by getting appropriate drugs and cofactors to location where mitochondrion doesn’t function, recently 3 DNA in IVF to prevent.

Question 6

Which metabolic disorders do we screen for?

Answer 6

PKU, hypothyroidism, Mukoviscidosis (CF), MCADD taken between 48-72h of live

Question 7

Screening tests:

Answer 7

Heel blood spot test (Guthrie test), tandem mass spectrometry.