METHIONINE MALABSORPTION

Question 1

What is  METHIONINE MALABSORPTION?

Accepted Answer

very rare

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Methionin-Malabsorption

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 250900

Question 4

Which enzymes are involved?

Accepted Answer

transport defect (?)

Disease	METHIONINE MALABSORPTION
Synonym	SMITH-STRANG DISEASE; OASTHOUSE URINE DISEASE
OMIM	250900 OMIM = Online Mendelian Inheritance of Men
Gene locus
ICD	E72.1
Summary	very rare
Laboratory findings	2-Hydroxybutyric acid inc (urine) 2-Ketobutyric acid inc (urine)
Symptoms	oast-house odor blue eyes diarrhea EEG abnormalities [-] fair hair mental retardation onset, infancy seizures tachypnea, hyperpnea, dyspnea, hyperventilation unusual odor / odour