BabyScreen+ newborn screening

Gene: MLYCD

Green List (high evidence)

variable severity but has early onset; detected by NBS

Treatment is of some value; low fat/high ChO diet

Created: 1 Nov 2022, 4:55 a.m. | Last Modified: 1 Nov 2022, 4:55 a.m.

Panel Version: 0.719

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypoglycaemia; metabolic acidosis; cardiomyopathy; ID; seizures

Publications

• PMID: 28781843
• PMID: 20549361

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Malonyl-CoA decarboxylase deficiency, MIM# 248360

Green List (high evidence)

Gene-disease association: Strong. Malonyl-CoA decarboxylase deficiency is an uncommon inherited metabolic disease. The characteristic phenotype is variable, but may include developmental delay in early childhood, seizures, hypotonia, diarrhea, vomiting, metabolic acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic acidemia, and hypertrophic cardiomyopathy.

Onset: Infancy

Severity: severe

Treatment: Yes. If not detected by newborn screening, most cases of MLYCDD present with metabolic decompensation characterized by severe metabolic acidosis and hypoglycemia, associated with poor prognosis. As a result of expanded newborn screening, more patients with MLYCDD have been identified prior to the onset of symptoms, allowing for early initiation of treatment and potential prevention of complications such as hypoglycemia, cognitive impairment and cardiomyopathy.

Created: 4 Oct 2022, 2:25 a.m. | Last Modified: 4 Oct 2022, 2:25 a.m.

Panel Version: 0.274

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Malonyl-CoA decarboxylase deficiency