Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.
The incidence of succinic semialdehyde dehydrogenase (SSADH) deficiency, an autosomal recessive inherited disorder of GABA degradation, is unknown. Upon a recent diagnosis of a new family of affected fraternal twins from the Punjabi ethnic group of India, case ascertainment from the literature and our database was done to determine the number of confirmed cases along with their geographic distribution. The probands presented with global developmental delay, infantile onset epilepsy, and a persistent neurodevelopmental disorder upon diagnosis at 10 years of age with intellectual disability, expressive aphasia, and behavioral problems most prominent for hyperactivity. Gamma-hydroxybutyric aciduria and homozygous ALDH5A1 c.608C>T; p.Pro203Leu mutations were confirmed. Identification of all available individual cases with clinical details available including geographic or ethnic origin revealed 182 patients from 40 countries, with the largest number of patients reported from the USA (24%), Turkey (10%), China (7%), Saudi Arabia (6%), and Germany (5%). This study provides an accounting of all published cases of confirmed SSADH deficiency and provides data useful in planning further studies of this rare inborn error of metabolism.
Department of Pediatrics, PGIMER, Chandigarh, India.
Savita Verma
SV
Attri
Department of Pediatrics, PGIMER, Chandigarh, India.
Pratibha
P
Singhi
Department of Pediatrics, Chiang Mai University, Chiang Mai, Thailand.
Natrujee
N
Wiwattanadittakul
Department of Pediatrics, PGIMER, Chandigarh, India.
Jyotindra N
JN
Goswami
Department of Pediatrics, PGIMER, Chandigarh, India.
Naveen
N
Sankhyan
Department of Biological Chemistry, Vrje University, Amsterdam, Netherlands.
Gajja S
GS
Salomons
Experimental and Systems Pharmacology, Washington State University, College of Pharmacy, Spokane, WA, USA.
Jean-Baptiste
JB
Roullett
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Ryan
R
Hodgeman
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Mahsa
M
Parviz
Experimental and Systems Pharmacology, Washington State University, College of Pharmacy, Spokane, WA, USA.
K Michael
KM
Gibson
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Phillip.Pearl@childrens.harvard.edu.
Phillip L
PL
Pearl