Lab results for neonates and infants with Prader-Will syndrome

Last updated:

03/20/07

Patient

Betsy

Reference

Betsy

Reference

Betsy

Reference

Kian

Daniel St.

Karson

Harry

Reference

Harry

Reference

Nathanael

Reference

Daniel S

Ref

Megan

Reference

Hannah

Reference

Sullivan

Age

2 days

3 days, 2:15a

3 days, 8:20a

3 days, 11:05a

<- Range

3 days, 2:28p

3 days, 4:10p

3 days, 11:50p

4 days, 12:50a

4 days, 4:40p

5 days, 4:30a

6 days, 5:16a

<- Range

7 days, 4:10a

7 days, 6:00a

8 days, 2:35a

9 days, 5:00a

<- Range

neonate

1 day

21 days

34 days

6 mos

2 mos

Range

11 mos

Range

NICU

Range

7 mos

Range

4y 9m

Range

11 days

Notes

Glucose metabolism

Glucose (mixed low and high)

60-110 mg/dL

57 L

65-99 mg/dL

90 Hn

65-99 mg/dL

Reducing substances, urine

negative

Betsy - no urinary glucose or galactose

Pyruvic acid

0.05

.03-.08 mmol/L

Hemoglobin A1C (glycosylated)

4.90%

<6%

Protein/amino acids/nitrogen balance

Amino acid screen, serum (low)

"severe generalized hypoaminoacidemia, ? malnutrition"

Amino acid screen, urine

"normal"

Organic acids, urine

"normal"

Glutamine (high)

High

by-product of ammonia metabolism

Cystine screen, urine

"normal"

BUN (blood urea nitrogen) (low)

6-19 mg/dL

4 L

6-19 mg/dL

8 Ln

5-18 mg/dL

5-26 mg/dL

low suggests severe liver disease or (protein) malnutrition

Creatinine (low)

0.8

.3-1.0 mg/dL

0.2 L

.3-1.0 mg/dL

0.3 Ln

.3-1.0 mg/dL

0.3 L

.5-1.6 mg/dL

.4 L

.5 - 1.5

low seen in conditions that result in decreased muscle mass

BUN/creatinine ratio (high)

45 H

8-27

Protein, total (low)

4.6-7 g/dL

4.3 L

4.4-7.6

4.4 Ln

4.4-7.6

5.7 Ln

4.8-7.8 g/dL

suggests protein not being digested or absorbed properly or being catabolized

Albumin (low)

3.9-4.8 g/dL

2.7 L

3.9-4.8 g/dL

4.2 Ln

3.7-5.1 g/dL

suggests protein not being digested or absorbed properly or being catabolized

Globulin (low)

1.5 Ln

1.3-3.1 g/dL

Albumin/Globulin (A/G) ratio (high)

2.6 H

.8-2.0

Creatine (phospho)kinase (CK/CPK) (high-low)

10-200 iu/L

165

10-200 iu/L

"sky high"

198 Hn

36 Ln

25-172 u/L

Creatine kinase-MB (CK-MB)

normal

Ammonia (high)

19-60 mcg/dL

100 H

139 H

19-60 mcg/dL

155 H

19-60 mcg/dL

High

suggests Reye’s syndrome, hepatic encephalopathy, hemolytic disease or urea cycle defect

Alkaline phosphatase (ALP) (high)

25-500 iu/L

171

25-500 iu/L

188

25-500 iu/L

234 Hn

50-270 u/L

Alanine aminotransferase (ALT) (high/low)

7-40 iu/L

118 H

51 H

14 Ln

3-60 u/L

Aspartate aminotransferase (AST) (low/high)

40-120 iu/L

28 Ln

25-95

29 Ln

25-95

238 H

37 L

3-50 u/L

strange

Aldolase (high)

High

Biotinadase

6.1

Bilirubin, total (norm-low-high)

7.5

6-8 mg/dL

8.2

8.6

7.4

6.6

4-12 mg/dL

4.8 H

3.4 H

2.4 H

0-1

.3 Ln

.2-1.5 mg/dL

0.2

Bilirubin, conjugated

0.1

Bilirubin, direct

0.2

0-.3 mg/dL

0.1

0.2

0-.3 mg/dL

0.2

0-.3 mg/dL

Bilirubin, indirect (norm-low-high)

7.3

5.7-7.7 mg/dL

8.1

7.2

6.4

3.7-11.7 mg/dL

4.6 H

3.2 H

2.2 H

0-.7

Carnitine/acylcarnitines

Carnitine, total (high)

66 H

<32-62 umol/L

12-41

Carnitine esters (high)

13 H

<4-12 umol/L

Carnitine, free (high)

53 Hn

<25-54 umol/L

42 H

8-33

Esterified/free carnitine ratio

0.25

<.09-.35

0.1

Free/total carnitine ratio

93 Hn

70-94

Short chain fatty acids/acylcarnitines

acetylcarnitine (C2) (high)

18.61 H

<11.75

28.91

0-25

7.39

4.21-20.6 nmol/L

* elevated C2 and C4-OH can be seen in ketosis, however the infant was not in a fasting state so the elevated C2 suggests a shift in the utilization of CoA from pyruvate oxidation to fatty acid oxidation * although ketosis may be present, a likely explanation for at least part of the elevated C2 is carnitine's role as an acetyl group acceptor from acetyl-CoA and thus the formation of acetylcarnitine, a reaction catalyzed by carnitine acetyl-transferase. A high acetyl-CoA/CoA ratio due to an increased reliance on fatty acid oxidation inhibits pyruvate dehydrogenase (PDH) and therefore glucose oxidation, so the high C2 indicates that exogenous carnitine is facilitating a shift back to more energy efficient glucose oxidation via a reduction of the acetyl-CoA/CoA ratio. [ cite ] * elevated C2 is a prominent feature of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

propionylcarnitine (C3) (high normal)

0.55 Hn

<0.59

170

0-700

1.33 Hn

0-1.5

* elevated in methylmalonic acidemias and propionic acidemia * possibly elevated in multiple carboxylase deficiency/biotinidase deficiency

propenoylcarnitine (C3:1)

<0.02

0.04

0-.3

malonyl/malonicacid (C3-DC)

0-50

0.02

0-.13

butyrylcarnitine (C4?)

237

0-600

isobutyrylcarnitine (C4) (high)

0.20

<0.29

1.1 H

0-1

methylmalonylcarnitine (C4-DC), succinic

<0.02

<0.03

BQL

0-.2

hydroxybutyrylcarnitine (C4-OH) (high)

0.09 H

<0.03

0.04

0-.4

* elevated C4-OH and C2 can be seen in ketosis, however the infant was not in a fasting state which suggests a shift in the utilization of CoA from pyruvate oxidation to fatty acid oxidation * elevated in short chain hydroxy acyl-CoA dehydrogenase deficiency * elevated in SUCLA2 mutation leading to mitochondrial DNA depletion, succinyl-CoA synthase deficiency in the Kreb's cycle (a distal step of the methylmalonic acid pathway), and mild methylmalonic aciduria.

Medium chain fatty acids/acylcarnitines

isovalerylcarnitine (C5) (pentanoylcarnitine?) (high normal)

0.22 Hn

<0.25

209

0-360

0.36

0-.70

elevated in isovaleric acidemia

tiglyl-methylcrotonylcarnitine (pentenoylcarnitine?) (C5:1) (Ln)

<0.02

0-30

0.03 Ln

0-.20

glutarylcarnitine (C5-DC) (Ln)

0.02

<0.06

0-90

0.03 Ln

0-.90

3-OH-isovalerylcarnitine (C5-OH) (hydroxypentanoylcarnitine?) (high)

0.04 H

<0.03

0-60

0.04

0-.11

elevated in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency and multiple carboxylase deficiency/biotinidase deficiency

hexanoylcarnitine (C6) (caproic)

0.08

<0.12

0-90

0.06

.01-.22

adipoylcarnitine/methylglutarylcarnitine (C6-DC)

0.03 H

<0.02

0.05

0-.10

elevated in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ; beta-oxidation product of C-8

3-OH-hexanolylcarnitine (C6-OH)

<0.02

octanoylcarnitine (C8)

0.15

<0.25

0-180

0.52

0-.80

octenoylcarnitine (C8:1)

0.42

<0.81

0.12

0-.70

suberylcarnitine (C8-DC) (high)

0.02 H

<0.02

decanoylcarnitine (C10)

0.14

<0.39

0-220

0.05

0-.90

decenolylcarnitine/cis-4-decenoyl (C10:1) (low)

0.02 Ln

<0.43

0-200

0.03

.01-.45

suggestive of impaired medium chain fatty acid/capric acid uptake and oxidation

decadeonoyl (C10:2)

0.04

0-.11

dodecanoylcarnitine (C12) (low)

0.05 Ln

<0.26

0-200

0.39

0-.60

suggestive of impaired medium chain fatty acid/lauric acid uptake and oxidation

dodecenoylcarnitine (C12:1) (low)

0.02 Ln

<0.24

0-240

0.05

0-.60

suggestive of impaired medium chain fatty acid/lauric acid uptake and oxidation

3-OH-dodecanoylcarnitine (C12-OH) (low)

<0.02

BQL

0-.80

3-OH-dodecenoylcarnitine (C12:1-OH)

0.04

0-.05

tetradecanoylcarnitine (C14)

0.03

<0.05

0.03

0-.30

tetradecenolycarnitine (C14:1)

<0.02

0-100

0.03

0-.30

tetradecadienoylcarnitine (C14:2) (low)

0.02 Ln

<0.12

0-130

0.03

0-.12

suggestive of impaired medium chain fatty acid/myristic acid uptake and oxidation

3-OH-tetradecanoylcarnitine (C14-OH)

<0.02

0.03

0-.14

3-OH-tetradecenoylcarnitine (C14:1-OH)

<0.02

Long chain fatty acids/acylcarnitines

hexadecanoylcarnitine/palmitoyl (C16)

0.09

<0.15

0.09

0-.8

hydroxyhexadecanoyl (C16-OH?)

0-50

hexadecenolylcarnitine (C16:1)

<0.02

<0.06

0.03

0-.20

3-OH-hexadecenolylcarnitine (C16:1-OH)

<0.02

BQL

0-.1

stearoylcarnitine (C18)

0.04

<0.09

0-100

0.08

0-.11

hydroxystearylcarnitine (C18-OH?)

0-50

oleoylcarnitine (C18:1)

0.16

<0.27

0-280

0.06

0-.5

linoleoylcarnitine (C18:2)

0.09

<0.14

0.03

0-.3

3-OH-oleoylcarnitine (C18:1-0H)

<0.02

0-50

0.03 Hn

0-.03

3-OH-linoleoylcarnitine (C18:2-OH)

<0.02

BQL

0-.06

Acylcarnitine ratios

C3/C2

0.18

C3/C4

1.2

C4/C2

0.15

C4/C3

0.83

.1-2.73

C5/C3

0.27

.09-1.29

C5-DC/C3

0.2

0-.48

C5-DC/C16

0.27

C8/C3

0.39

C8/C10

10.1

C8/C10:1

6.24

C14:1/C16

0.27

C14:1/C16:1

0.41

0-1.77

C16-OH/C18

BQL

C16/C2

0.01

Urinary organic acids

"pattern of excretion of organic acids is not consistent with an organic aciduria"

2-hydroxyisocaproic acid

0 mg/g

3-methylcrotonylglycine (low)

0 Ln

0-3 mg/g

3-phenylpropionylglycine

0 mg/g

4-hydroxybutric acid

0 mg/g

4-hydroxyphenylpyruvate (high)

High

metabolite of tyrosine catabolism and diagnostic marker for tyrosinemia

4-hydroxyphenylacetate

increased in protein starvation and bacterial overgrowth syndrome

4-hydroxyphenyllactate (low-high)

High

1.2 Ln

0-50 mg/g

ethylmalonic acid

8.5

0-20 mg/g

glutaric acid

2.6

0-10 mg/g

hexancylglycine

0.8

0-2 mg/g

isovalerylglycine (low)

0 Ln

0-7 mg/g

methylmalonic acid (low)

0 Ln

0-10 mg/g

N-acetylaspartic acid (low)

0.3 Ln

0-4 mg/g

orotic acid (low)

1 Ln

0-4 mg/g

overproduced in alternative pathway when there is a block in urea cycle. High amounts usually found in ornithine transcarbamylase deficiency, citrullinemia, and often in argininosuccinic aciduria. Useful in determining cause of hyperammonemia.

propionylglycine

0 mg/g

Plasma amino acids

"pattern is not consistent with a disorder of amino acid metabolism"

1-methyl histidine

0 (ND)

0 umol/L

5 Hn

0-5

3-methyl histidine

0 (ND)

0 umol/L

0-8

alanine

323

0-611 umol/L

229

148-420

alpha-aminoadipic acid

0 (ND)

0 umol/L

alpha-aminobutyrate (high)

24 H

0 umol/L

2-amino-n-butyric acid

01/31/07

anserine

0 (ND)

0 umol/L

arginine

0-249 umol/L

21L

42-132

argininosuccinic acid

0-1

asparagine

0-152 umol/L

70 Hn

12-72

aspartic acid (high)

27 Hn

0-31 umol/L

1-42

beta-alanine

0-7 umol/L

beta-aminoisobutyrate

0 umol/L

carnosine

0 (ND)

0 umol/L

citrulline

0-92 umol/L

2-41

cystathionine (low)

1 Ln

0-5 umol/L

cystine

0-142 umol/L

1-49

ethanolamine (low)

0 Ln

0-4 umol/L

gamma-aminobutyrate

0 umol/L

glutamic acid

118

0-195 umol/L

232 H

13-133

glutamine (mixed high and normal)

High

683

0-933 umol/L

568

238-842

by-product of ammonia metabolism

glycine

276

0-569 umol/L

227

104-344

histidine

100

0-142 umol/L

37-97

homocystine

0 umol/L

0-1

hydroxyproline

0-92 umol/L

alloisoleucine

0-1

isoleucine (high)

105 Hn

0-108 umol/L

10-86

leucine (high)

172 Hn

0-183 umol/L

114

30-142

lysine (high)

267 H

0-257 umol/L

methionine

0-55 umol/L

9-45

ornithine

113

0-159 umol/L

110 Hn

5-129

phenylalanine

0-117 umol/L

23-79

o-phosphoethanolamine

0 Ln

0-10

phosphoethanolamine

0-66 umol/L

o-phosphoserine

4 Ln

0-22

phosphoserine (high)

9 H

0 umol/L

proline

221

0-430 umol/L

284 Hn

59-299

sarcosine

0 (ND)

0 umol/L

serine

203

0-299 umol/L

139

56-188

taurine

177

0-228 umol/L

0-189

threonine (high)

298 H

0-242 umol/L

158

20-210

tryptophan (high)

83 H

23-71 umol/L

tyrosine

0-150 umol/L

105

20-96

valine (high)

252 Hn

0-292 umol/L

174

50-242

Calcium

9.8

9-10.9 mg/dL

9.7

9-10.9 mg/dL

9-11 mg/dL

Calcium, corrected (high)

11.1 H

8.4-10.4 mg/dL

Betsy - hypercalcemia - puzzling bec. high calcium should be matched w/ high albumin and protein

Phosphorus

5.2

4.5-6.5 mg/dL

Triglyceride

32-99 mg/dL

Endocrinological

IGF-1 (low and high)

68 Ln

25-265 ng/mL

660 H*

49-283 ng/ml

* on GHT

IGFBP-3 (high)

6.3 H*

1-4.7 mg/L

* on GHT

170

48-320 ng/dL

T4, free, non-dialysis

7.9

5.6-16.4 ug/dL

0.84 ng/mL

no ref range

1.17 Ln

1.02-1.72 ng/dL

TSH (thyroid stimulating hormone) (low)

2.15

.67-5.97uU/mL

1.3 Ln

.8-6.3 uUI/mL

Serum electrolytes

Sodium(NA+) (high/low)

137 Ln

134-144 mmol/L

146 H

142

134-144

144 Hn

143

139-146

136 Ln

135-146 mmol/L

137 Ln

135-148 mmol/L

hypernatremia - electrolyte imbalance

Potassium (K+) (high)

4.5

3.7-5.9 mmol/L

4.8

5.2

6.9 H

3.7-5.9 mmol/L

6.4 H

4.7

4.1-5.3 mmol/L

5.2 Hn

4.1-5.3 mmol/L

4.1

3.5-5.5 mmol/L

hyperkalemia - electrolyte imbalance

Chloride (Cl-) (high)

107 Hn

96-110 mmol/L

110 Hn

111 H

96-110

107 Hn

96-108

101

98-110 mmol/L

96-109 mmol/L

hyperchloremia - indicates electrolyte imbalance, possible dehydration, metabolic acidosis, respiratory alkalosis

CO2, total (bicarbonate) (high/low)

13-22 mmol/L

24 H

25 H

13-22

20-28

17 L

21-33 mEQ/L

20-32 mmol/L

indicates acid-base/electrolyte imbalance; why no blood gases ordered?

Anion gap ([NA + K] - [CL + CO2/HCO3])

5-15 mmol/L

* calculated at http://www.intmed.mcw.edu/clincalc/aniongap.html - ref range: 16 +/- 4 mmol/L with potassium; 12 +/- 4 mmol/L without potassium. * Note that the normal value for anion gap must be adjusted in patients with hypoalbuminemia, as a reduction in serum albumin by 10 g/L reduces the normal value for anion gap by 2.5 mmol/L.

Lactic acid (high)

2.1 Hn

.5-2.2 mmol/L

increased in hypoxia or any condition that decreases oxygen tissue availability, increases lactate production, and/or decreases lactate clearance

State screening

PKU

negative

State repeat blood spot

CAH

normal

GAL

normal

Thyroid

normal

Hemoglobin

normal, FA

Amino acid profile

normal

Acylcarnitine profile

normal

CSF

clear, colorless, 0 WBC, 700 RBC, protein 41(high?), glucose 45 (low?)

Hematology

WBC count (low)

12200

6-17.5 x10^3

7.4 Ln

6-17.5 x10^3

9.2

6.7 Ln

6-17.5 x10^3

RBC

5.03

3.9-6.3 x10^6

5.27

4.65

3.9-6.3 x10^6

Hemoglobin

17.9

13.5-21.5 g/dL

18.7

16.6

13.5-21.5 g/dL

Hematocrit

42-66%

54.8

42-66%

56.3

50.3

42-66%

MCV

109

88-126 fL

107

108

88-126 fL

MCH

35.5

28-40 pcg

35.4

35.6

28-40 pcg

MCHC

32.7

29-37%

33.2

32.9

29-37%

Red cell distribution width (RDW) (high normal)

15.1 Hn

10.5-15.5

14.9 Hn

10.5-15.5

seen in pernicious anemia

Platelet count

162000

132-400 x10^3

155

132-400 x10^3

176

189

132-400 x10^3

MPV

8.1

6.8-11 fL

9.3

8.8

6.8-11 fL

Neutrophils (low)

36.7 L

35-70%

29 L

28.7 L

35-70%

elevated in infections but is low here

Band neutrophils (low)

2-5%

1 L

2-5%

Lymphocytes (high)

42.3 Hn

25-45%

59 H

49.8 H

25-45%

elevated in infections

Lymphocytes, % reactive

0-2%

Monocytes (Low - high normal)

11.2

5-15%

3 L

13.7 Hn

5-15%

Eosinophils (High)

9.1 H

2-4%

8 H

6.8 H

2-4%

Basophils

0.5

0-2%

1.1

0-2%

Metamyelocytes

0-.1%

Myelocytes %

0-.1%

Promyelocytes %

0-.1%

Blasts %

0-.1%

Other cells

Neutrophils, ABS #

2.7

10^3/mcL

2.8

1.9

10^3/mcL

Anisocytosis (unequally sized RBCs) ("slight")

"slight"

hawkinsinuria?

Poikilocytosis (variably shaped RBCs) (slight-mod)

"slight"

"moderate"

Macrocytes ("moderate")

"moderate"

Polychromasia ("slight")

"slight"

hawkinsinuria?

Imaging

Chest/abdominal x-ray

normal exc. for slight dilated SI loops

Cranial CT w/o contrast

normal