Term
| Characteristics that make you consider an In-born error of metabolism: |
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Definition
CCMDRRPUUH
- Critically ill newborn
- Children with seizures
- Mental Retardation
- Developmental Delay
- Recurrent vomiting
- Reye-Like Syndromes
- Parenchymal liver disease
- Unusual urine/body odors
- Unexplained acidosis unreponsive to usual treatment
- Hypoglycemia |
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Term
| Characteristics that make you strongly suspect an inborn error of metabolism: |
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Definition
- Symptoms change with diet
- Developmental slowing or regression
- Strong food preferences/aversions |
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Term
| PE findings of inborn errors of metabolims: |
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Definition
- Alopecia/abnormal hair
- Eye findings: retinal cherry red spots, retinitis pigmentosa, cataracts, corneal opacity
- Hepatosplenomegaly
- Coarse features
- Skeletal changes
- Ataxia
- Failure to thrive
- Microcephaly
- Jaundice or rash
- Hypo/hypertonia |
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Term
| Common presentation of in-born errors of metabolism in neonates: |
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Definition
SAPJSJ
- resembles Sepsis
- Altered mental status
- Poor feeding/vomiting
- Jitteriness
- Seizures
- Jaundice |
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Term
| Presentation of inborn errors of metabolism in infants and older children; |
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Definition
- Growth failure
- Developmental delay
- Behavioral/emotional problems
- Deafness
- Blindness
- Retardation
- Vomiting
- Encephalopathy
- Reye like syndrome (vomiting/encephalopathy, hepatomegaly)
- Hypoglycemia |
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Term
| Labs to order for inborn error of metabolism screen: |
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Definition
- Electrolytes
- Glucose
- Ammonia
- Urine: pH, ketones, reducing substances
- Serum pH |
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Term
| Renal tubular acidosis aka __ __ has __ serum pH and __ urine pH. |
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Definition
- hyperchloremic acidosis
- low serum pH (acidic)
- high urine pH (basic) |
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Term
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Definition
- hyperchloremic acidosis
- basic urine (high pH)
- acidic serum (low pH0
- defect in kidney reabsorption/excretion
- may be caused by in-born error of metabolism |
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Term
| Urine in a hypoglycemic child should contain __, if it does not, this may indicate __ __ __ like a __ __ __ defect. |
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Definition
- ketones
- if not, may indicate inborn error of metabolism like fatty acid oxidation defect |
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Term
| Ketone production is not usually efficient in neonates, thus __ and __ in a neonate suggest an inborn error of metabolism. |
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Definition
| - hypoglycemia and ketonuria |
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Term
| Hyperammonemia causes rapid symptoms: |
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Definition
- Decreased appetite
- Vomiting
- Lethargy
- Seizures
- Coma |
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Term
| Texas Newborn Screen includes 29 inborn errors of metabolism including: |
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Definition
- 2 endo d/o: hypothyroidism and adrenal hyperplasia
- 3 sickling hemoglobinopathies including sickle cell disease
- 5 Fatty acid oxidation disorders
- 8 Amino acid disorders (PKU)
- 9 Organic acid disorders
- Biotidinase deficiency
- Galactoseia-1-Phosphage Uridyltransferase Deficiency |
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Term
| when do the Texas newborn screens occur? |
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Definition
- 24-48 hours or before hospital discharge
- second one at 1-2 weeks of age |
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Term
| Galactosemia occurs d/t deficiency of __ __ __ __ . Galactose builds up in the __, __, and __. Symptoms start early after milk introduction and include __ , __ __, __, __ __, __, __ __, __ , __ , __ __ , and __ __, especially __ __. |
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Definition
- galactose-1-phosphate uridyltransferase
- liver, brain, and kidneys
- vomiting
- weight loss
- lethargy
- poor feeding
- jaundice
- liver dysfunction
- hepatomegaly
- cataracts
- mental retardation
- early sepsis
- E. coli |
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Term
| E.coli sepsis tends to occur with ___. |
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Definition
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Term
| PKU pts lack __ __. This is autosomal __ and can lead to: |
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Definition
- phenylalanine hydroxylase
- recessive
- MR
- hyperactivity
- seizures
- light complexion
- mouse like urine odor |
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Term
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Definition
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Term
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Definition
- increased phenylalanine
- normal or decreased tyrosine |
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Term
| There are many false positives for ___ b/c of the __ surge that occurs at birth. This should be back down by 1-2 weeks. Rescreen positives. |
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Definition
- hypothyroidism
- TSH surge |
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Term
| premature infants have a low __. |
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Definition
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Term
| Clinical features of hypothyroidism: |
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Definition
Delayed tooth eruption
Large fontanelle with delayed closure
Short extremities
Short stature
Pale, cool, mottled skin
Non-pitting myxedema
Umbilical hernia
Hypothermia
Bradycardia
Slow relaxation of DTR’s
Decreased pulse pressure
Persistent jaundice
Delayed transient deafness
- Growth retardation
- Decreased physical activity
- Constipation
- Macroglossia
- Hypotonia
- Protuberant abdomen
- Hoarse cry/voice
- Prominent axillary/supraclavicular fat pads
- Anemia
- Intellectual retardation
- Dry coarse hair
- Laterally thinning eyebrows |
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Term
| Delayed tooth eruption may indicate: |
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Definition
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Term
| Hypothyroidism lab findings: |
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Definition
- Increased TSH
- Decreased T4
- Normocytic anemia
- Delayed bone age |
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Term
| normally vomiting would cause alkalosis, so if acidosis with vomiting, think IEM. |
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Definition
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