Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia

J Inherit Metab Dis. 1997 Jul;20(3):370-4. doi: 10.1023/a:1005334129412.

Authors

K M Gibson¹, A E Doskey, D Rabier, C Jakobs, C Morlat

Affiliation

¹ Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX 75226, USA.

PMID: 9266358
DOI: 10.1023/a:1005334129412

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Aldehyde Oxidoreductases / deficiency*
Child
Family
Female
Humans
Intellectual Disability / genetics
Leukocytes / enzymology
Male
Metabolism, Inborn Errors / enzymology*
Metabolism, Inborn Errors / genetics
New Caledonia
Sodium Oxybate / urine
Succinate-Semialdehyde Dehydrogenase

Substances

Sodium Oxybate
Aldehyde Oxidoreductases
ALDH5A1 protein, human
Succinate-Semialdehyde Dehydrogenase