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)