Table 1.

Underlying LC-FAOD diagnosis, organ involvement and clinical outcome in 12 Austrian LC-FAOD patients

Patient	Sex	Current age (years)	LC-FAOD diagnosis	Age at diagnosis (months)	Clinical symptoms (decompensation) at diagnosis	Newborn screening	Age at start of C7 therapy (years)	Hepatopathy2		Cardiomyopathy3		Retinopathy		NG or PEG tube	Special-needs school	Poly-neuropathy
								At age (months/years)		At age (months/years)		At age (months/years)
1	Male	20.5	LCHADD	23.1	Yes	Not yet established1	4.8	Yes	23/1.9	Yes	23/1.9	Yes	98/8.2	No	No	No
2	Female	14.2	LCHADD	1.6	No	Negative at firsta1	0.7	No	–	No	–	Yes	69/5.8	No	No	No
3	Male	9.1	LCHADD	0.3	No	Positive	0.6	Yes	9/0.7	Yes	9/0.7	Yes	78/6.5	No	No	No
4	Female	4.8	LCHADD	0.4	Yes	Positive	1.0	Yes	2/0.2	Yes	3/0.3	Yes	24/2.0	No	No	No
5	Female	5.0	LCHADD	0.0	No	Positive	1.0	No	–	No	–	No	–	No	No	No
6	Female	3.1	VLCADD	0.0	No	Positive	0.0	No	–	Yes	10/0.8	No	–	No	No	No
7	Female	4.1	LCHADD	0.0	No	Positive	0.1	No	–	No	–	No	–	No	No	No
8	Female	4.1	LCHADD	0.0	No	Positive	0.1	No	–	No	–	No	–	No	No	No
9	Male	9.1	CPTII	4.1	No	Positive	7.9	Yes	2/0.2	Yes	3/0.3	No	–	No	No	No
10	Male	11.6	LCHADD	5.5	Yes	Negative at firsta1	3.7	Yes	5/0.4	Yes	5/0.4	Yes	38/3.2	Yes	No	No
11	Male	13.7	LCHADD	0.0	Yes	Positive	11.6	Yes	113/9.4	Yes	139/11.6c	Yes	38/3.2	No	Yes	Yese
12	Male	32.0	VLCADD	36.0	Yes	Not yet establisheda	29.4	Yes	376/31.3	Yes	36/3c	No	–	No	No	No
Median		9.1		0.35			1.0		9/0.7		9.5/0.8		53/4.4

Patients 3, 7 and 8 are siblings; Patient 11 has two affected siblings without triheptanoin therapy; Patient 12 has two affected siblings, one deceased and one without triheptanoin therapy. All other patients have no affected siblings

Patient 1 was previously reported in: JIMD Reports (2014), Karall et al. (https://doi.org/10.1007/8904_2014_313) [14]

Patients 1, 2, 3 and 10 were previously reported in: Orphanet J. Rare Dis. (2015) 10:21, Karall et al. (https://doi.org/10.1186/s13023-015-0236-7) [15], Patient 1 is Patient 2, Patient 2 is Patient 4, Patient 3 is Patient 6, Patient 10 is Patient 8

Patient 10 was previously reported in: Orphanet J Rare Dis. (2018) 13: 122, Lotz-Havla et. al. (https://doi.org/10.1186/s13023-018-0875-6) [16], Patient 10 is Patient 3

C7: triheptanoin; LC-FAOD: long-chain fatty acid oxidation disorder; LCHADD: long-chain 3-hydroxy acyl-CoA dehydrogenase deficiency; VLCADD: very long-chain acyl-CoA dehydrogenase deficiency; CPT2: carnitine palmitoyl transferase 2 deficiency; NG: nasogastric; PEG: percutaneous endoscopic gastrostomy

^aborn before April 2002, when newborn screening for LC-FAOD was implemented in Austria

^a1Newborn screening was false-negative due to prematurity and parenteral nutrition with carnitine supplementation

^bAt study date, all patients have normal liver function tests

^cIn Patients 1, 6, 10, 11, 12, cardiomyopathy was dilatative; in Patients 3, 4, 9 hypertrophic. At study date Patients 1, 3, 4, 6, 9, 10 have normal cardiac function. In Patients 11 and 12 cardiac function is impaired, cardiomyopathy has not resolved

^dRetinopathy findings are stable in all patients at study date. Patients 1 and 10 wear glasses for myopia

^eWheelchair-bound