Metabolic Disorders in the Neonate

Question 1

Definition of Metabolism

Answer 1

Refers to a set of chemical reactions that occur in living organisms, that allow growth and reproduction, the maintaining of structure and the response to environmental stimuli.

Question 2

Definition of Hyperglycaemia

Answer 2

Refers to when blood sugar levels are higher than normal (>8mmol/L)

Question 3

Symptoms of Hyperglycaemia

Answer 3

• Thirst/hunger
• Frequent urination
• Dehydration
• Nil symptoms
• Slow HR

Question 4

Complications with Hyperglycaemia

Answer 4

• Diabetes
• Blindness
• Kidney damage

Question 5

Causes of Hyperglycaemia

Answer 5

• Gestational diabetes
• neonatal diabetes
• bottle overfeeding
• Drugs
• IV’s

Question 6

Definition of Hypoglycaemia

Answer 6

Refers to when blood sugars are abnormally low (<2.5mmol/L)

Question 7

Symptoms of Hypoglycaemia

Answer 7

• Weight gain
• Lethargy
• Cyanosis
• Hypothermia
• Jitteriness
• Poor feeding
• Poor tone
• Seizures

Question 8

Complications of Hypoglycaemia

Answer 8

• Seizures

- Brain injury

Question 9

Causes of Hypoglycaemia

Answer 9

• Too much insulin in blood
• Inadequate maternal diet
• Birth asphyxia
• Infection
• Liver disease
• Birth defects

Question 10

Definition of Hypercalcaemia

Answer 10

Defined as too much calcium in the blood (>3mmol/L)

Question 11

Symptoms of Hypercalcaemia

Answer 11

• Vomiting
• Constipation
• Lethargy
• Seizures

Question 12

Causes of Hypercalcaemia

Answer 12

• Iatrogenic (medical errors)

Question 13

Definition of Hypocalcaemia

Answer 13

Defined as too little calcium in the blood (<2mmol/L in term, 1.75mmol/L in preterm).

Question 14

Symptoms of Hypocalcaemia

Answer 14

• Apnea
• Telany
• Hypotonia

Question 15

Causes of Hypocalcaemia

Answer 15

• Prematurity
• SGA
• Ingestion of cows milk (late onset)
• Mat diabetes
• Asphyxia

Question 16

Definition of Hypermagnesemia

Answer 16

Defined as too much magnesium in the blood (>2mmol/L). It is very uncommon.

Question 17

Symptoms of Hypermagnesemia

Answer 17

• not usually present

Question 18

Causes of Hypermagnesemia

Answer 18

• Kidney insufficiency
• Haemolysis
• Magnesium infusion

Question 19

Complications of Hypermagnesemia

Answer 19

• Hypotension
• Resp depression
• Cardiac arrest

Question 20

Definition of Hypernatraemia

Answer 20

Defined as too much sodium in the blood (>145mEq/L)

Question 21

Symptoms of Hypernatraemia

Answer 21

• Lethargy
• Restlessness
• Hypothermia
• Hyperreflexia
• Seizures

Question 22

Causes of Hypernatraemia

Answer 22

• Dehydration

- Salt poising

Question 23

Definition of Hyponatraemia

Answer 23

Defined as too little sodium in the blood (<135mEq/L)

Question 24

Symptoms of Hyponatraemia

Answer 24

• Nausea and vomiting
• Seizures
• Apathy
• Hypothermia

Question 25

Causes of Hyponatraemia

Answer 25

• Dehydration

- Inappropriate ADH secretion

Question 26

Definition of Osteopenia

Answer 26

A condition characterised by a reduction in the bone mineral content

Question 27

Symptoms of Osteopenia

Answer 27

• Clinically silent

- Rickets

Question 28

Cause of Osteopenia

Answer 28

• Preterm
• Inadequate nutrition
• Immobilsation
• Prolonged period of parentreal nutrition
• Some drugs

Question 29

Definition of Inborn Errors of Metabolism

Answer 29

A large class of genetic diseases involving disorders of metabolism

Question 30

Symptoms of Inborn Errors of Metabolism

Answer 30

• Poor feeding
• Irritability
• Abnormal tone
• Seizures
• D+V
• Dehydration
• Brady
• Tachypnea
• Temperature instability

Question 31

Causes of Inborn Errors of Metabolism

Answer 31

• Single gene defects