Table 1.

Genotype-Phenotype Relationship in our patient and those reported with DLD deficiency

Case	Age	Genotype	Phenotype												Ref
			LD	FTT	DD	Enceph	Hypotonia	Seizure	Hepato	Liver dysfunction	Lactic acidosis	Hypoglycemia	Leigh-like MRI	Other
1	1 day	R482G/R482G					+	+					N	Limb spasticity, ptosis, hypertrophic cardiomyopathy	14
2	1 day	R482G/R482G					+		+		+		N	Splenomegaly, limb hypertonia	14
3	1 day	R482G/R482G		+			+				+				14
4	2 days	Y35X/G229C					+		+					Normal IQ	1
5	3 days	D479V/D479V			+		+				+	+		Microcephaly	16
6	3 days	Y35X/G229C					+		+				N	Recurrent emesis, normal IQ	1
7	3 days	G136del/E375K			+			+	+				N	Optic atrophy	13
8	1–2 mos	G229C/G229C												Repetitive hypoglycemic episodes	6
9	Infancy	G229C/G229C												Episodic emesis	6
10	Infancy	G229C/G229C								+				Recurrent emesis	6
11	7 mos	I480M/I480M											N	Ptosis, photophobia, weakness	3
12	8 mos	G229C/G229C					+	+		+		+			15
13	8 mos	G229C/G229C				+									6
14	14 mos	I47T/E375K					+						N	Microcephaly, ptosis	12
15	2 yrs	G229C/G229C							+					Recurrent emesis	1
16	2–3 yrs	G229C/G229C							+					Recurrent emesis, exertional fatigue	1
17	3 yrs	G229C/G229C												Sepsis with multiorgan failure	1
18	3 yrs	G229C/G229C												Exertional fatigue, porphyria	1
19	20 yrs	G229C/G229C							+					Recurrent emesis, myoglobinuria, weakness	1
20	2 days	I47T/G229C						+		+	+	+	Y	Myocardial dysfunction	12
21	2 days	M361V/E375K					+						Y	Poor feeding,	10
22	6 mos	K72E/P488L		+			+						Y	Spastic quadriplegia, dystonia	8
23	6 mos	Y35Xins/R495G		+		+	+						Y		9
24*	12 mos	G137del/I353T	+			+				+	+	+	Y
25	2 yrs	IVS+1G>A/I393T			+		+						Y	Ataxia, microcephaly, stroke-like episode, tetraspasticity	11

LD, learning disability; FTT, failure to thrive; DD, developmental delay; Enceph, encephalopathy; Hepato, hepatomegaly; and *, our patient (in bold).