Table 2.

Clinical and molecular characteristics of patients with 3-methylglutaconic aciduria type V, including this report.

Study features	Davey 2006	Ojala 2012	Al Teneiji 2016	Ucar 2017	Al Tuwaijri 2022	Our patient
No. of patients	18 hutterite patients	2 Finish brothers	1 patient	1 Turkish patient	1 Arabic patient	1 Greek patient
Age at diagnosis	N/A	N/A	13 years old	2 months	3 years old	5.5 years old
Clinical features at the disease onset	(i) DCMP (11/18) (ii) Growth failure (iii) Ataxia (10/18) (iv) Genital anomalies	(i) DCMP (ii) Growth retardation (iii) Ataxia (iv) Cryptorchidism (1/2)	(i) DCMP (transient) (ii) Ataxia (iii) Hypotonia	(i) DCMP noncompaction (ii) Growth failure (iii) Cryptorchidism (iv) Severe neurodevelopmental delay	(i) DCMP (ii) Developmental delay	(i) Genital anomalies (ii) Growth retardation (iii) Transaminasemia (iv) Anemia
Additional features	(i) Long QT (6/18) (ii) Transaminasemia (8/18) (iii) Hepatic steatosis (5/18) (iv) Anemia (12/18) (v) Mild MR (10/18) (vi) Optic atrophy (4/18) (vii) 3-MGA	(i) Noncompaction CMP (ii) Long QT (iii) Anemia (iv) Hypotonia	(i) 3-MGA (transient) (ii) Developmental delay (iii) Mild transaminasemia	(i) Sensorineural hearing loss (ii) Bilateral basal ganglia lesions (iii) Dysmorphic facial features (iv) Anemia (v) Transaminasemia (vi) 3-MGA	(i) Growth retardation (ii) Hypotonia	(i) DCMP with noncompaction features (ii) Prolonged QT (iii) Liver steatosis (iv) Vit D disorders (v) Hypercalciuria (vi) Osteopenia
Genetic analysis	Homozygous splice site mutation (IVS3-1G > C)	Homozygous polymorphism c.285A ⟶ C (p.Gly95 = )	Homozygous five base pair splice site deletion in the DNAJC19 (c.280þ1_280þ 5delGTAAG)	Variant c.63delC (p.Tyr21∗) in homozygous state	Single homozygous frameshift at codon 54 in exon 4 (c.159del) [Phe54Leufs∗5]	Homozygous insertion of a single base (T) at codon 21 in exon 3 of the DNAJC19 gene, c.62dup (p.Tyr21Ter)

N/A: not available; DCMP: dilated cardiomyopathy; 3-MGA: 3-methylglutaconic aciduria; MR: mental retardation.