Table 1.

Patient characteristics, and hepatic, muscular, and cardiac findings.

ID	Sex	Age at diagnosis in months	Age at MRA in years	Genotype		BMI at MRA	Diet at MRAa	Liver Disease					Muscle Disease		Cardiac Disease
				Variant 1	Variant 2			Hypoglycemia	Cirrhosis	HCC	Decompensated liver disease	LT	Muscle weakness	Assistive device	LVH	CM
GSD IIIa
1	F	9	18.6	c. 2309-1G > A	c.4260-12A > G	37.8	HP + UCCS	Yes	No	No	No	No	Generalized	No	No	No
18b	F	4	18.7	c.2681 + 1G > T	c.2681 + 1G > T	23.0	HP + UCCS	No	No	No	No	No	LL & muscles of the hand	No	Yes	No
41	F	17	20.1	c.4543 T > C p.Cys1515Arg	c.4543 T > C p.Cys1515Arg	25.7	None	No	No	No	No	No	Normal	No	No	No
2	F	6	20.3	NP	NP	27.3	HP + UCCS	No	Yes	No	No	No	NA	No	Yes	No
40	M	11	21.5	c.4365del p.Ile1455fs	c.3964del p.Val1322fs	52.3	UCCS	Yes	Yes	No	Yes	No	NA	No	Yes	Yes
3	F	8	21.7	c.2309-1G > A	c.4260-12A > G	23.5	HP + UCCS	Yes	No	No	No	No	LL & muscles of the hand	No	No	No
19b	F	4	22.4	c.2681 + 1G > T	c.2681 + 1G > T	26.5	HP + UCCS	No	No	No	No	No	Mild hypothenar hypotrophy	No	Yes	No
24	F	24	23.7	c.118C > T p.Gln40Ter	c.2309-1G > A	24.9	None	No	Yes	No	Yes	Yes	Generalized	No	No	No
21	F	6	25.4	c.4529dup p.Tyr1510Ter	c.2309-1G > A	24.5	HP	Yes	Bridging fibrosis	No	No	No	LL & muscles of the hands.	No	No	No
42	F	12	26.8	c.3014del p.Cys1005fs	c.4543 T > C p.Cys1515Arg	19.1	HP	No	NA	NA	No	No	Generalized	No	Yes	Yes
49	F	16	30.2	c.4260-12A > G	NAd	20.1	HP + UCCS	No	No	No	No	No	Generalized	Ramp	No	No
25	F	8	36.0	c.3965del p.Val1322fs	c.3965del p.Val1322fs	32.5	UCCS	Yes	No	No	No	No	Generalized	No	No	No
32	F	6	41.0	c.410_413del p.Leu137fs	c.2039G > T p.Trp680Ter	23.9	HP	Yes	No	No	No	No	LL & small muscles of the hands	No	No	No
46	M	24	45.2	NP	NP	33.8	HP	No	No	No	No	No	Generalized	No	No	No
8	F	6	46.4	c.2590C > T p.Arg864Ter	c.4529dup p.Tyr1510Ter	20.1	HP + UCCS	Yes	Yes	No	No	No	Generalized	Rotator	No	No
39	M	12	55.0	c.1963G > A p.Gly655Arg	c.3701-17C > A	21.6	None	Yes	Yes	Yes	Yes	No	Generalized	Wheelchair	No	No
13c	M	12 years	57.6	c.100C > T p.Arg34Ter	c.2590C > T p.Arg864Ter	34.8	HP	No	Yes	No	Yes	Yes	Generalized	Cane	Yes	No
48c	M	NA	58.5	c.100C > T p.Arg34Ter	c.2590C > T p.Arg864Ter	26.3	NA	No	NA	NA	NA	NA	NA	NA	Yes	No
47c	M	NA	61.5	c.100C > T p.Arg34Ter	c.2590C > T p.Arg864Ter	33.8	HP	No	NA	NA	NA	NA	Generalized	NA	Yes	No
29	F	18	64.9	c.2155C > T p.Gln719Ter	c.3980G > A p.Trp1327Ter	27.9	HP	Yes	Yes	Yes	Yes	No	Generalized	Wheelchair	No	No
22	M	NA	68.0	c.1471_1482del p.Val491_Arg494del	c.4259 + 5G > A	31.4	HP	No	Yes	Yes	No	No	Generalized	Wheelchair	Yes	No
GSD IIIb
20	F	12	19.4	c.18_19del p.Gln6fs	c.757G > C p.Ala253Pro	23.6	HP + UCCS	No	No	No	No	No	NC	NC	No	No
33	M	9 years	42.2	c.18-19del p.Gln6fs	c.2590C > T p.Arg864Ter	32.1	None	No	Yes	No	Yes	No	NC	NC	No	No
38	M	24	48.3	c.18-19del p.Gln6fs	c.2039G > A p.Trp680Ter	43.4	None	Yes	Yes	No	Yes	No	NC	NC	No	No
11	M	18	60.6	c.16C > T p.Gln6Ter	c.2039G > A p.Trp680Ter	43.1	HP	No	Yes	No	No	No	NC	NC	Yes, secondary to HTN	No

Note: all gene variants are based on NM_000028.2.

Abbreviations: MRA: Most recent assessment, HCC: Hepatocellular carcinoma, LT: Liver transplantation, LVH: Left ventricular hypertrophy, CM: Cardiomyopathy, HP: High protein, UCCS: Uncooked cornstarch, LL: Lower limbs, NP: Genetic testing was not performed, NA: Data was not available, NC: Data was not collected.

^aA full detailed history of the dietary therapy over the entire duration of follow up was not available for this study.

^bPatients 18 and 19 are siblings.

^cPatients 13, 47, and 48 are siblings.

^dSecond allele was not identified by genetic testing.