Pws Lab Results
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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)
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.
* 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 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)
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