COMBINED MALONIC AND METHYLMALONIC ACIDURIA (CHAMMA)

Question 1

What is  COMBINED MALONIC AND METHYLMALONIC ACIDURIA (CHAMMA)?

Accepted Answer

rare
autosomal recesive
autosomal dominant
mutation in the ACSF3 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Malon- und Methylmalonazidurie, kombinierte

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614265

Question 4

Which enzymes are involved?

Accepted Answer

Acyl-CoA synthetase family member 3, mitochondrial

Disease	COMBINED MALONIC AND METHYLMALONIC ACIDURIA (CHAMMA)
OMIM	614265 OMIM = Online Mendelian Inheritance of Men
Orphanet	289504
Protein (UniProt)	Acyl-CoA synthetase family member 3, mitochondrial
Gene locus	16q24.3
ICD	E71.1
Summary	rare autosomal recesive autosomal dominant mutation in the ACSF3 gene
Laboratory findings	Malonylcarnitine (C3DC) inc (blood) Cholesterol n/d (plasma) D-Glucose dec (plasma) L-Carnitine n/i (dried blood spot (DB) L-Carnitine n/i (plasma) L-Lactic acid normal/inc (plasma) Malonic acid inc (urine) Methylmalonic acid inc (plasma) Methylmalonic acid inc (urine)
Symptoms	hypoglycemia ketosis, ketoacidosis behavior, abnormal or bizarre, confusion cardiomyopathy developmental delay dystonia encephalopathy failure to thrive feeding difficulties, poor feeding headache (severe, recurrent or occipital, migraine) hypotonia liver involvement or dysfunction metabolic acidosis microcephaly (<2 SD for age) MRI, brain, abnormalities [-] oculogyric crisis onset, adolescent onset, adulthood onset, childhood onset, infancy opisthotonus psychomotor retardation seizures speech difficulties vomiting