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Table 1 Clinical, biochemical and molecular genetic features of SymX patients are summarized in Table 1

From: Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic

Patient#/study ID/sex/diagnosis/age of diagnosis/current age

Presenting symptom (age of onset)/other clinical features

Initial investigations AC1,2,3/TC1,2,3/FC1,2,3/UOA

Molecular genetic investigations

Outcome

1/1/F/CPT-I deficiency/2yrs/26yrs

Seizure (2yrs)/hypoglycemia, GTCS

N/N/N/↑AA, SUA, 3OH-SEA/NP

HMZ c.1436C > T (p.Pro479Leu) in CPTIA

Hospital admissions (n = 5), normal echo (26yrs)

2/3/F/CPT- I deficiency /neonatal/3yrs

Hypoglycemia (neonatal)/no

N/N/N/↑2-oxoadipic acid,

4-HPPA, 4-HPLA/NP

HMZ c.1436C > T (p.Pro479Leu) in CPTIA

Normal

3/7/F/CPT- I deficiency /2mo/3yrs

Hepatosplenomegaly (2mo)/no

N/NP/62.01/N/NP

HMZ c.1436C > T (p.Pro479Leu) in CPTIA

Normal echo (3yrs)

4/10/F/CPT- I deficiency/neonatal/3yrs

Hypoglycemia (neonatal)/no

NP

HMZ c.1436C > T (p.Pro479leu) in CPTIA

Hospital admissions (n = 1)

5/49/F/CPT- I deficiency/5yrs/22yrs

RM (5yrs)/hypoglycemia

N/NP/18.5/NP/NP

HMZ c.1436C > T (p.Pro479Leu) in CPTIA

Hospital admissions (n = 2)

6/6/M/CPT-II deficiency/35yrs/51yrs

Myopathy (18yrs)/ RM, ATN, fatigue, myalgia, myoglobinuria

N/NP/NP/↑lactic acid/NP

NP

Hospital admissions (n = 3)

7/14/F/CPT-II deficiency/15yrs/24yrs

RM (15yrs)/myalgia

C18:1OH = 0.05/N/N/NP/NP

CMP HTZ c.298delG (p.Val100Leufs*30)/c.338C > T (p.Ser113Leu) in CPT2

Hospital admissions (n = 12)

8/15/F/CPT-II deficiency/35yrs/36yrs

RM (20yrs)/myoglobinuria, myopathy, ATN

C16 = 0.74, C18:1 = 0.85, C18:2 = 0.51/N/N/NP/NP

CMP HTZ c.341-2621_1121del/c.338C > T (p.Ser113Leu) in CPT2

Hospital admissions (n = 2), normal echo (35yrs)

9/37/M/LCHAD deficiency/47yrs/55yrs

RM (4yrs)/retinopathy, myopathy, peripheral neuropathy

C16:1OH = 0.08, C16OH = 0.18, C18:1OH = 0.16, C18OH = 0.16/N/N/NP/NP

HTZ c.1528G > C (p.Glu474Gln) in HADHA

Hospital admissions (n = 16), normal echo (53yrs)

10/42/M/VLCAD deficiency/10mo/25yrs

Hypoglycemia (10mo)/DCMP, myalgia, RM, myopathy, hypoglycemia

C14:1 = 4.15, C14:2 = 0.46/78/57/N/NP

CMP HTZ c.605 T > A (p.Leu202His)

/c.1182 + 1G > A in ACADVL

Hospital admissions (n = 3), normal echo (23yrs)

11/52/F/VLCAD deficiency/neonatal/7mo

Hypoglycemia (neonatal)/hypotonia

C14:2 = 0.94, C14:1 = 9.03/119.9/32.6/↑AA, SUA, SEA/NP

CMP HTZ c.1182 + 1G > A/

c.1406G > A (p.Arg469Gln) in ACADVL

Hospital admissions (n = 4), normal echo (2wks)

12/45/M/CACT deficiency/neonatal/3yrs

Hypoglycemia (neonatal)/no

C16 = 1.36,

C18:1 = 0.70,

C16-DC = 0.15 /N/N/NP/NP

CMP HTZ c.897dupC (p.Asn300Glnfs*24)/c.269 T > G (p.Phe90Cys) in SLC25A20

Normal echo (3yrs)

13/47/M/CACT deficiency/neonatal/deceased

Hypotonia, cardiac arrest, lactic acidemia, hypoglycemia (neonatal)/no

C16 = 13.66, C18:1 = 4.31/N/20.51/NP/NP

CMP HTZ c.326 + 1delG (IVS3 + 1delG)

/c.10C > T (p.Gln4X) in SLC25A20

Hospital admissions (n = 1), left ventricular dysfunction, MV, TV tricuspid regurgitation in echo (5 d)

14/48/M/MAD deficiency/4yrs/26yrs

Lethargy (8mo)/seizure, hypoglycemia

Elevated C4-C14a/106/40/↑AA/NP

CMP HTZ c.524G > A (p.Arg175His)

/c.1001 T > C (p.Leu334Pro) in ETFDH

Hospital admissions (n = 3), normal echo (24yrs)

  1. Reference Ranges: Free carnitine1 7.3–30.4; Free carnitine2 18.6–55.0; Free carnitine3 25.3–57.0; Total carnitine1 14.0–47.0; Total carnitine2 24.9–72.1; Total carnitine3 32.5–73.6; C161 0.04–0.41; C162 0.03–0.22; C163 0.03–0.19; C16-DC1 < 0.06; C16-DC2 < 0.03; C16-DC3 0.03–0.09; C16-OH1 < 0.05; C16-OH2 < 0.04; C16-OH3 < 0.02; C18:11 0.04–0.20; C18:12 0.03–0.23; C18:13 0.03–0.26; C18:21 < 0.10; C18:22 < 0.12; C18:23 < 0.13; C18-OH1 < 0.03; C18-OH2 < 0.03; C18-OH3 < 0.02; C18:1OH1 < 0.02; C18:1OH2 < 0.03; C18:1OH3 < 0.02; C16:1OH1 < 0.27; C16:1OH2 < 0.11; C16:1OH3 < 0.03; C14:11 < 0.26; C14:12 < 0.28; C14:13 < 0.11; C14:21 < 0.10; C14:22 < 0.13; C14:23 < 0.11
  2. 1 Indicates reference range for age group newborn-2 months
  3. 2 Indicates reference ranges for age group 2 months-18 years
  4. 3 Indicates reference ranges for age group 18 years and up
  5. 4-HPPA 4-OH-phenylpyruvic acid; 4-HPLA 4-hydroxyphenyllactic acid; AA adipic acid; AC acylcarnitines; ATN acute tubular necrosis; CACT carnitine acylcarnitine translocase; Car carnitine; CMP HTZ compound heterozygous; CPT-I carnitine palmitoyltransferase I; CPT-II carnitine palmitoyltransferase II; CTD carnitine transporter defect; DCMP dilated cardiomyopathy; echo echocardiography; FC free carnitine; F female; HMZ homozygous; LCHAD long-chain 3-hydroxyacyl-CoA dehydrogenase; MAD multiple acyl-CoA dehydrogenase; mo months; MV mitral valve; NB newborn; N normal; NP not performed; NR not reported; RM rhabdomyolysis; SEA sebacic acid; SUA suberic acid; TV tricuspid valve; UOA urine organic acids; yrs year(s); VLCAD very long-chain acyl-CoA dehydrogenase
  6. aResult report did not provide values
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172