Pws Lab Results

PWS lab results - acylcarnitines NTL1 Short chain acylcarnitines C2 (acetylcarnitine)

C3 (propionylcarnitine) C3-DC (malonylcarnitine C3:1 (propenoylcarnitine) C4 (isobutyrylcarnitine) C4-DC (methylmalonylcarnitine) C4-OH (hydroxybutyrylcarnitine)

HRR2

HRR3

MGN4

1.03 (<1.78)

1.33 Hn

18.61 H

170

0.55 Hn

19 (0-50)

0.02 Ln

<0.02 (<0.02) 237 0.20 (0-600) (<0.29) <0.02 (<0.03) 0.09 H

C5 (isovalerylcarnitine)

209 (0-360) C5-DC (glutarylcarnitine) 46 (0-90) C5-OH (3-OH-isovalerylcarnitine) 35 (0-60) C5:1 (tiglyl-methylcrotonylcarnitine) 19 (0-30)

0.22 Hn 0.02 (<0.06) 0.04 H

0.04 Ln 0.32 (<1.06)

1.1 H BQL (0-.2) 0.04 Ln

0.21 (<0.63) 0.03 (<0.10)

0.36 (0-.70) 0.03 Ln 0.0 (0-.11) 0.03 Ln

<0.02 (<0.02)

Medium chain acylcarnitines C6 (hexanoylcarnitine) C6-DC (adipylcarnitine/ methylglutarylcarnitine) C6-OH (3-OH-hexanolylcarnitine) C8 (octanoylcarnitine) C8-DC (suberylcarnitine)

94 H

0.08 (<0.12) 0.03 H

<0.02 (<0.02) 64 0.15 (0-180) (<0.25) 0.02 H

0.23 H

0.06 Ln 0.05 (0-.10)

0.33 (<0.76)

0.52 (0-.80) 0.12 Ln

C8:1 (octenoylcarnitine) C10 (decanoylcarnitine) C10:1 (decenolylcarnitine)

0.42 (<0.81) 77 0.14 (0-220) (<0.39) 93 0.02 Ln (0-200)

0.24 (<0.91) 0.20 (<0.91) 0.07 (<0.46)

C10:2 (decenolylcarnitine) C12 (dodecanolylcarnitine)

72 0.05 (0-200) (<0.26) C12-OH (3-OH-dodecanolylcarnitine) <0.02 (<0.02) C12:1 (dodecenolycarnitine) 46 0.02 Ln (0-240) C12:1-OH (dodecenolycarnitine)

0.07 (<0.35) 0.01 Ln 0.04 Ln (<0.37)

0.05 Ln 0.03 Ln 0.04 (0-.11) 0.39 (0-0.60) BQL Ln 0.05 Ln 0.04 Hn

Long chain acylcarnitines C14 (tetradecanoylcarnitine)

0.03 (<0.05) C14-OH (3-OH-tetradecanoylcarnitine) <0.02 (<0.02) C14:1 (tetradecenolycarnitine) 55 <0.02 (0-100) (<0.02) C14-OH (OH-tetradecenoylcarnitine) C14:1-OH (3-OH-tetradecenoylcarnitine) <0.02 (<0.02) C14:2 (tetradecadienoylcarnitine) 49 0.02 Ln (0-130) C16 (hexadecanoylcarnitine) 0.09 (<0.15) C16-OH (3-hydroxyhexadecanoylcarnitine) 8 (0-50) C16:1 (3-OH-hexadecenolylcarnitine) <0.02 (<0.06) C16:1-OH (3-OH-hexadecenolylcarnitine) <0.02 (<0.02) C18 (stearoylcarnitine) 34 0.04 (0-100) (<0.09) C18-OH (OH-oleoylcarnitine) 7 Ln C18:1 (oleoylcarnitine) 74 0.16 (0-280) (<0.27) C18:1-OH (3-OH-oleoylcarnitine) 7 <0.02 (0-50) (<0.02) C18:2 (linoleoylcarnitine) 0.09 (<0.14) C18:2-OH (3-OH-linoleoylcarnitine) <0.02 (<0.02)

0.02 Ln 0.01 (<0.05) 0.02 Ln

0.03 Ln (0-.30)

0.03 Ln 0.03 Ln

0.02 Ln

0.03 Ln

0.05 (<0.25) 0.09 H

0.09 Ln

0.06 (<0.21)

0-.14 (0-.20) BQL Ln (0-.1) 0.08 (0-.11)

0.00 Ln

0.08 (<0.45) 0.03 (<0.04) 0.04 Ln

0.06 Ln 0.03 Hn 0.03 Ln BQL Ln

Notes

* elevated C2 and C4-OH can be seen in ketosis, however he 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 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. * also note that elevated C2 is a prominent feature of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency * elevated in methylmalonic acidemias and propionic acidemia * possibly elevated in multiple carboxylase deficiency/biotinidase deficiency

* elevated C4-OH and C2 can be seen in ketosis, however he was not in a fasting state which suggests 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 methylmalo aciduria. * elevated in fasting * elevated in isovaleric acidemia

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

* beta-oxidation product of C-8 * suggests increased fatty acid omega-oxidation * elevated in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

caprylic acid elevated during fasting

lauric acid

lauric acid

myristic acid

* elevated in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional prote (TFP) deficiency palmitoleic acid

oleic acid

linoleic acid (essential unsaturated omega-6 acid)

PWS lab results - serum amino acids (see also Tyrosine)

BTS (3 d, NICU) "severe generalized hypoaminoacidemia , ? malnutrition" 1-methyl histidine 2-amino-n-butyric acid 3-methyl histidine

alanine alpha-aminoadipic acid Alpha-aminobutyrate anserine arginine argininosuccinic acid asparagine aspartic acid beta-alanine beta-aminoisobutyrate carnosine citrulline cystathionine cysteine ethanolamine gamma-aminobutyrate glutamic acid glutamine

glycine

histidine homocysteine hydroxyproline alloisoleucine isoleucine

HRR (11 m)

KRS (34 d)

0 [ND] (0)

5 Hn (05) 23 229 (148420) 3 (0-8)

323 (0-611) 0 [ND] (0) 0 [ND] (0) 24 H (0) 0 [ND] (0) 75 (0-249)

(42132) 0 (0-1) (12-72)

96 (0-152) (0-31) -- (0-7) 0 (0) 0 [ND] (0) 26 (0-92) 1 Ln (0-5) 38 (0-142) 0 Ln (0-4) 0 (0) 118 (0195) 683 (0933) 276 (0569) 100 (0142) 0 [ND] (0) 44 (0-92) (0-108)

NTN (NICU)

19 (1-42)

22 (241) 33 (149)

High

(13133) 568 (238842) 227 (104344) 76 (37-97) 0 (0-1) 0 (0-1) 45 (10-86)

leucine

lysine methionine ornithine phenylalanine ophosphoethanolamine o-phosphoserine phosphoserine proline

sarcosine (Nmethylglycine) serine

taurine threonine

tryptophan Tyrosine valine

(0-183)

(0-257) 46 (0-55) 113 (0-159) 60 0-117)

114 (30-142)

25 (945) (5-129) 62 (23-79) (0-10)

19 (0-66) (0-22) (0-22) 221 (0-430)

284 Hn (59-299)

0 [ND] (0) 203 (0-299)

139 (56-188)

177 (0-228) (0-242)

70 (0-189) 158 (20-210)

(23-71) 85 (0-150) (0-292)

(20-96) 174 (50-242)

PWS lab results - urinary amino acids BTS (3 d, NICU)

"normal"

PWS lab results - serum carnitine Serum carnitine Type NTN

Age

Supp?

Total

Esters

Free

NICU

 ?

62

6

56

SLV

UPD

5m

N

(24-100)

8

(20-88)

RN

UPD

11 y

N

(35-90)

11 (4-36)

(25-55)

HRR

11 m

Y

(32-62) (4-12)

(25-54)

MGN

6y

Y

(12-41)

3

(8-33)

Age

Supp?

Total

Esters

Free

Y

3478 H (180412)

1107

Ester/free Free/total ratio ratio 0.1 Ln? .90 Hn? 0.33 .6 (0.1-0.8) 0.25 (.09-.35) 0.07

0.75 0.64 0.8 (.70-.94)

Urinary carnitine Type HRR

13.5 m

Ester/free Free/total ratio ratio

2371 H (0.7-3.4) (77-214)

0.68

PWS lab results - electrolytes and acid base

Type

Age

BTS

del

2d

BTS

del

BTS

del

BTS

del

BTS

del

BTS

del

4 d, 12:50a 4 d, 4:40p 6 d, 5:16a 7 d, 4:10a 8 d, 2:35a

Sodiu m 137 (134144) (134144) (134144) (134144) (139146) 143 (139146)

Potassiu Chlorid m e 4.5 (3.7-5.9) 4.8 (3.7-5.9) 5.2 (3.7-5.9)

7.4 (7.3507.450)

(13-22) (13-22)

(96108)

24 (20-28)

4.2 (3.6-5.1)

104 (101111)

28 (22-32)

HRR

9d

(3.5-4.9)

HRR

11 d

(135145)

5 (4.0-6.2)

HRR

14 d

HRR

11 m

(135146)

(4.1-5.3)

HNN

4y 9m

(135148)

4.1 (3.5-5.5)

MGN

8y

MCL

(2226)

20 (13-22)

4.7 (4.1-5.3)

(138146)

144 (135148) 141 (135150)

pH

(4.1-5.3)

5y 9m

del

Bicarb

(3.7-5.9)

(136144)

BTS

107 (96110) (96110) (96110)

HCO2 total

4.4 (3.5-5.3) 4.6 (3.5-5.5)

(23-27) 101 (95105)

101 (98110) 99 (96109) 102 (95110)

(17.022.0)

(21-33) 26 (20-32) 28 (22-31)

Anion Lactic acid/ gap lactate

Calcium

Calciu m correct ed

9.8 (9-10.9)

(8.410.4)

14 (5-15)

(.5-2.2)

(1020)

1.9 (0.7-2.5) (1.121.32)

0.9 (venous <2.0, arterial <1.6)

PWS lab results - urinary organic acids HRR (11 m) 2-hydroxyisocaproic acid 0 (0 mg/g) 2-methylcitric acid 4.3 (0-8.0 mg/g) 3-methylcrotonylglycine 0 Ln (0-3.0 mg/g) 3-phenylpropionylglycine 0 (0 mg/g) 4-hydroxybutyric acid 0 (0 mg/g) 4-hydroxyphenyllactic 1.2 Ln (0-50.0 mg/g) acid ethylmalonic acid 8.5 (0-20.0 mg/g) glutaric acid 2.6 (0-10.0 mg/g) hexanoylglycine 0.8 (0-2.0 mg/g) isovalerylglycine 0 Ln (0-7.0 mg/g) methylmalonic acid 0 Ln (0-10.0 mg/g) N-acetylaspartic acid .3 (0-4.0 mg/g) orotic acid 1.0 (0-4.0 mg/g) propionylglycine 0 (0 mg/g) "unidentified peaks are present, which may be drug metabolites"

PWS lab results - thyroid

T-3 T-4 T-4, free TSH

HRR (11 m) HRR (11.5 m) 170 (48-320 ng/dL) 7.9 (5.6-16.4 ng/dL) 0.84 (not estab.) 1.3 2.15 (0.8-6.5 (.67-5.97 uU/mL) ng/dL)