. 2014 Apr 10;15:13–27. doi: 10.1007/8904_2014_293

Table 1.

Presenting symptoms/signs and results of confirmatory tests

Patient number/sex	Age at onset	Presenting symptoms/signs	PDHC activity (%)	Mutation
1/male	Neonatal	Feeding difficulties	F: 39	PDHA1: c.1133G > A, p.Arg378His
		Lethargy
		Irregular breathing
		Hypertonia
2/female	Neonatal	Feeding difficulties	F: 36 (PDH E1: 28)	PDHA1: c.419-(17_14)delTGTT
		Lethargy	SM: 39
		Hypotonia
3/female	Neonatal	Feeding difficulties	F: 21	PDHA1: c.927_933delAGTAAGA, p.Ser312Valfs11
		Lethargy
		Hypotonia
		Seizures
		Facial asymmetry
4/male	Neonatal	Feeding difficulties	F: 32	PDHA1: c.483C > T, p.Tyr161Tyr
		Lethargy
		Respiratory distress
		Hypotonia
		Seizures
5/male	Neonatal	Feeding difficulties	F: 35	PDHA1: c.604-10C > G
		Lethargy
		Respiratory distress
		Hypotonia
6/female	Neonatal	Feeding difficulties	F: 19	PDHA1: c.511G > A, p.Val171Met
7/female	Neonatal	Feeding difficulties	F: 50	PDHA1: c.947C > T, p.Pro316Leu
7/female	Neonatal	Hyperextension neck	F: 50	PDHA1: c.947C > T, p.Pro316Leu
8/female	Neonatal	Mild lethargy	F: 33 (relative to protein)	PDHA1: c.1139_1142dupCCAA, p.Trp383Serfs5
9/female	Neonatal	Congenital retinal dystrophy	F: 40 (PDH E1: 37)	PDHA1: c.853C > T, p.Gln285*
10/male	M2	Seizures	F: 43	PDHA1: c.628A > G, p.Met210Val
10/male	M2	Respiratory distress	L: 53	PDHA1: c.628A > G, p.Met210Val
11/male	M2	Episodes of irregular breathing	F: 11	PDHA1: c.1132C > T, p.Arg378Cys
11/male	M2	Seizures	F: 11	PDHA1: c.1132C > T, p.Arg378Cys
12/male	M4	Feeding difficulties	F: 43	PDHA1: c.1156_7insT, p.Lys387*
		Hypotonia	L: 18
			SM: <5
13/female	M6	Feeding difficulties	L: 39	PDHA1 c.1156_7insT, p.Lys387*
		Lethargy
		Hypotonia
		Developmental delay
14/female	M12	Developmental delay	F: 64	PDHA1: c.858_861dupTTAC, p.Arg288Leufs9
14/female	M12	Progressive microcephaly	F: 64	PDHA1: c.858_861dupTTAC, p.Arg288Leufs9
15/male	M12	Tremor	F: 37	PDHA1: c.787C > G, p.Arg263Gly
		Frequent falling
		General weakness
16/male	M14	Intermittent ataxia	F: 75	PDHA1: c.787C > G, p.Arg263Gly
17/female	M24	Developmental delay	F: 10	PDHA1: c.1156_7insT, p.Lys387*
17/female	M24	Right hemiparesis	F: 10	PDHA1: c.1156_7insT, p.Lys387*
18/male	Y2M3	Intermittent ataxia	F: 41	PDHA1: c.261T > G, p.Ile87Met
19^a/female	(Cascade testing)	No symptoms	ND	PDHA1: c.261T > G, p.Ile87Met
20^b/female	Neonatal	Feeding difficulties	F: 26

Y years, M months, Sz seizures, F fibroblasts, L lymphocytes, SM skeletal muscle^aAsymptomatic female patient diagnosed through cascade testing^bPDHC deficiency secondary to HIBCH deficiency