METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MMSDH)

Question 1

What is  METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MMSDH)?

Accepted Answer

very rare (5 patients)
autosomal recessive

mutation in the ALDH6A1 gene

defect of valine and pyrimidine catabolism

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Entwicklungsverzögerung durch Methylmalonat-Semialdehyd-Dehydrogenase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614105

Question 4

Which enzymes are involved?

Accepted Answer

Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial

Disease	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MMSDH)
Synonym	MMSDH DEFICIENCY
OMIM	614105 OMIM = Online Mendelian Inheritance of Men
Orphanet	289307
Protein (UniProt)	Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
ExPASy	1.2.1.18, 1.2.1.27
Gene locus	14q24.3
ICD	E71.1
Summary	very rare (5 patients) autosomal recessive mutation in the ALDH6A1 gene defect of valine and pyrimidine catabolism
Laboratory findings	3-Aminoisobutyric acid inc (urine) 3-Hydroxypropionic acid inc (urine) 3-Hydroxyisobutyric acid inc (urine) beta-Alanine inc (urine) L-Lactic acid inc (urine) Methylmalonic acid inc (urine)
Symptoms	cataract developmental delay dysmorphism episodic course (clinical symptoms) failure to thrive feeding difficulties, poor feeding gastroesophageal reflux hepatomegaly (large liver) hypotonia lactic acidosis mental retardation metabolic acidosis microcephaly (<2 SD for age) motor retardation onset, childhood onset, infancy psychomotor retardation vomiting