Epidemiological studies for clinical manifestations and case numbers of inborn errors of ketone body metabolism (HMG-CoA syntase deficiency, HMG-CoA lyase deficiency, beta-ketothiolase deficiency, SCOT deficiency)

Epidemiological studies for clinical manifestations and case numbers of inborn errors of ketone body metabolism (HMG-CoA syntase deficiency, HMG-CoA lyase deficiency, beta-ketothiolase deficiency, SCOT deficiency) - Epidemiological studies of inborn errors of ketone body metabolism

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

JPRN

Registry ID

JPRN-UMIN000003717

Enrollment

100

Registered

2010-06-10

Start date

2010-06-01

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

HMG-CoA synthase deficiency, HMG-CoA lyase deficiency, Beta-ketothiolase deficiency, Succinyl-CoA:3-ketoacid CoA transferase deficiency

Interventions

None listed

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: definite diagnosed possibly diagnosed

Exclusion criteria

Exclusion criteria: obviously excluded

Design outcomes

Primary

Measure	Time frame
clinical data	—

Countries

Japan

Contacts

Public ContactToshiyuki Fukao

Gifu University Graduate School of Medicine

toshi-gif@umin.net056-230-6380

Outcome results